Canonical Allele Identifier: CA414817316
Gene: MT-ND5 HGNC NCBI

Linked Data

ClinVar Variation Id: 693543
ClinVar RCV Id: RCV000854918
dbSNP Id: rs1603224132
MyVariant Identifiers: chrMT:g.13288G>A (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.13288G>A , J01415.2:m.13288G>A GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361567.2:c.952G>A ENSP00000354813.2:p.Gly318Ser