Canonical Allele Identifier: CA347798

Gene: MT-CO1

Linked Data

• ClinVar Variation Id: 40158
• ClinVar RCV Id: RCV000202557
• dbSNP Id: rs397507452
• MyVariant Identifiers: chrMT:g.7443A>G (hg38)
• PubMed: PMID:20301595

Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.7443A>G , J01415.2:m.7443A>G	GRCh38

Transcript Alleles

HGVS	Amino-acid change
ENST00000361624.2:c.1540A>G	ENSP00000354499.2:p.Arg514Gly