Canonical Allele Identifier: CA337097349
Gene: MT-CO1 HGNC NCBI

Linked Data

ClinVar Variation Id: 692630
ClinVar RCV Id: RCV000853950
dbSNP Id: rs878927119
MyVariant Identifiers: chrMT:g.6252A>G (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.6252A>G , J01415.2:m.6252A>G GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361624.2:c.349A>G ENSP00000354499.2:p.Ile117Val