Canonical Allele Identifier: CA414818135
Gene: MT-ND5 HGNC NCBI

Linked Data

ClinVar Variation Id: 693560
ClinVar RCV Id: RCV000854935
dbSNP Id: rs1603224200
MyVariant Identifiers: chrMT:g.13471G>A (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.13471G>A , J01415.2:m.13471G>A GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361567.2:c.1135G>A ENSP00000354813.2:p.Ala379Thr