variant gene allele [GENO_0000515]

An allele of a gene that contains some sequence alteration. A gene allele is ‘variant’ in virtue of its containing a sequence alteration that varies from some reference gene standard. But note that a gene allele that is variant in one context/dataset can be considered a reference in another context/dataset.
Tags:

Open variant gene allele in VFB

VFB Term Json

{
    "term": {
        "core": {
            "iri": "http://purl.obolibrary.org/obo/GENO_0000515",
            "symbol": "",
            "types": [
                "Entity",
                "Class"
            ],
            "short_form": "GENO_0000515",
            "label": "variant gene allele"
        },
        "description": [
            "An allele of a gene that contains some sequence alteration."
        ],
        "comment": [
            "A gene allele is 'variant' in virtue of its containing a sequence alteration that varies from some reference gene standard.  But note that a gene allele that is variant in one context/dataset can be considered a reference in another context/dataset."
        ]
    },
    "query": "Get JSON for Class",
    "version": "44725ae",
    "parents": [
        {
            "symbol": "",
            "iri": "http://purl.obolibrary.org/obo/GENO_0000014",
            "types": [
                "Entity",
                "Class"
            ],
            "short_form": "GENO_0000014",
            "label": "gene allele"
        },
        {
            "symbol": "",
            "iri": "http://purl.obolibrary.org/obo/GENO_0000002",
            "types": [
                "Entity",
                "Class"
            ],
            "short_form": "GENO_0000002",
            "label": "variant allele"
        }
    ],
    "relationships": [
        {
            "relation": {
                "iri": "http://purl.obolibrary.org/obo/GENO_0000683",
                "label": "varies_with",
                "type": "varies_with"
            },
            "object": {
                "symbol": "",
                "iri": "http://purl.obolibrary.org/obo/GENO_0000036",
                "types": [
                    "Entity",
                    "Class"
                ],
                "short_form": "GENO_0000036",
                "label": "reference allele"
            }
        },
        {
            "relation": {
                "iri": "http://purl.obolibrary.org/obo/GENO_0000641",
                "label": "is_variant_allele_of",
                "type": "is_variant_allele_of"
            },
            "object": {
                "symbol": "",
                "iri": "http://purl.obolibrary.org/obo/SO_0000704",
                "types": [
                    "Entity",
                    "Class"
                ],
                "short_form": "SO_0000704",
                "label": "gene"
            }
        },
        {
            "relation": {
                "iri": "http://purl.obolibrary.org/obo/GENO_0000382",
                "label": "has_variant_part",
                "type": "has_variant_part"
            },
            "object": {
                "symbol": "",
                "iri": "http://purl.obolibrary.org/obo/SO_0001059",
                "types": [
                    "Entity",
                    "Class"
                ],
                "short_form": "SO_0001059",
                "label": "sequence_alteration"
            }
        }
    ],
    "xrefs": [],
    "anatomy_channel_image": [],
    "pub_syn": [],
    "def_pubs": [
        {
            "core": {
                "symbol": "",
                "iri": "http://flybase.org/reports/Unattributed",
                "types": [
                    "Entity",
                    "Individual",
                    "pub"
                ],
                "short_form": "Unattributed",
                "label": ""
            },
            "FlyBase": "",
            "PubMed": "",
            "DOI": ""
        }
    ]
}