Canonical Allele Identifier: CA414818168
Gene: MT-ND5 HGNC NCBI

Linked Data

ClinVar Variation Id: 693562
ClinVar RCV Id: RCV000854937
dbSNP Id: rs1603224203
MyVariant Identifiers: chrMT:g.13478C>T (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.13478C>T , J01415.2:m.13478C>T GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361567.2:c.1142C>T ENSP00000354813.2:p.Ala381Val