Canonical Allele Identifier: CA337097281
Gene: MT-CO1 HGNC NCBI

Linked Data

ClinVar Variation Id: 692600
ClinVar RCV Id: RCV000853919
dbSNP Id: rs879227822
MyVariant Identifiers: chrMT:g.5911C>T (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.5911C>T , J01415.2:m.5911C>T GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361624.2:c.8C>T ENSP00000354499.2:p.Ala3Val