Canonical Allele Identifier: CA250584

Gene: MT-CO1

Linked Data

• ClinVar Variation Id: 9667
• ClinVar RCV Id: RCV000010305 ; RCV000853954
• dbSNP Id: rs267606882
• MyVariant Identifiers: chrMT:g.6264G>A (hg38)
• PubMed: PMID:9806551 ; PMID:13298683

Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.6264G>A , J01415.2:m.6264G>A	GRCh38

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361624.2:c.361G>A	ENSP00000354499.2:p.Gly121Arg