Canonical Allele Identifier: CA340923

Gene: MT-CO1

Linked Data

• ClinVar Variation Id: 9568
• ClinVar RCV Id: RCV000010181
• dbSNP Id: rs199474818
• MyVariant Identifiers: chrMT:g.7445A>C (hg38)
• PubMed: PMID:17659260 ; PMID:20301595

Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.7445A>C , J01415.2:m.7445A>C	GRCh38

Transcript Alleles

HGVS	Amino-acid change
ENST00000361624.2:c.1542A>C	ENSP00000354499.2:p.Arg514Ser