Allele Registry

Canonical Allele Identifier: CA250585

Gene: MT-CO1 HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chrMT:g.6277G>A

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000010310

ClinVar Variation:

9672

dbSNP:

281865417

Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.6277G>A , J01415.2:m.6277G>A	GRCh38

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361624.2:c.374G>A	ENSP00000354499.2:p.Gly125Asp

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