Canonical Allele Identifier: CA250586

Gene: MT-CO1

Linked Data

• ClinVar Variation Id: 9673
• ClinVar RCV Id: RCV000010311
• dbSNP Id: rs267606884
• MyVariant Identifiers: chrMT:g.7275T>C (hg38)
• PubMed: PMID:16407113 ; PMID:19218458

Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.7275T>C , J01415.2:m.7275T>C	GRCh38

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361624.2:c.1372T>C	ENSP00000354499.2:p.Ser458Pro