Allele Registry

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Canonical Allele Identifier: CA120611

Gene: MT-CO1 HGNC NCBI

Linked Data

ClinVar Variation Id: 9666

ClinVar RCV Id: RCV000010304 RCV000853974 RCV003985072

dbSNP Id: rs199476128

MyVariant Identifiers: chrMT:g.6480G>A (hg38)

PubMed: PMID:9832034

Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.6480G>A , J01415.2:m.6480G>A	GRCh38

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361624.2:c.577G>A	ENSP00000354499.2:p.Val193Ile

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