Canonical Allele Identifier: CA414815192
Gene: MT-ND5 HGNC NCBI

Linked Data

ClinVar Variation Id: 693492
ClinVar RCV Id: RCV000854865
dbSNP Id: rs879012050
MyVariant Identifiers: chrMT:g.12858C>A (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.12858C>A , J01415.2:m.12858C>A GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361567.2:c.522C>A ENSP00000354813.2:p.Tyr174Ter