Allele Registry

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Canonical Allele Identifier: CA120614

Gene: MT-CO1 HGNC NCBI

Linked Data

ClinVar Variation Id: 9670

ClinVar RCV Id: RCV000010308 RCV000853976

dbSNP Id: rs28461189

MyVariant Identifiers: chrMT:g.6489C>A (hg38)

PubMed: PMID:12140182

Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.6489C>A , J01415.2:m.6489C>A	GRCh38

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361624.2:c.586C>A	ENSP00000354499.2:p.Leu196Ile

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