Canonical Allele Identifier: CA414819406
Gene: MT-ND5 HGNC NCBI

Linked Data

ClinVar Variation Id: 693601
ClinVar RCV Id: RCV000854979
dbSNP Id: rs1603224340
MyVariant Identifiers: chrMT:g.13760C>T (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.13760C>T , J01415.2:m.13760C>T GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361567.2:c.1424C>T ENSP00000354813.2:p.Ala475Val