Canonical Allele Identifier: CA414781114
Gene: MT-CO1 HGNC NCBI

Linked Data

ClinVar Variation Id: 692605
ClinVar RCV Id: RCV000853924
dbSNP Id: rs386828982
MyVariant Identifiers: chrMT:g.5985G>A (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.5985G>A , J01415.2:m.5985G>A GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361624.2:c.82G>A ENSP00000354499.2:p.Val28Ile