Canonical Allele Identifier: CA414782736

Gene: MT-CO1

Linked Data

• ClinVar Variation Id: 692629
• ClinVar RCV Id: RCV000853949
• dbSNP Id: rs1556423095
• MyVariant Identifiers: chrMT:g.6249G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.6249G>A , J01415.2:m.6249G>A	GRCh38

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361624.2:c.346G>A	ENSP00000354499.2:p.Ala116Thr