Canonical Allele Identifier: CA337099924
Gene: MT-ND5 HGNC NCBI

Linked Data

ClinVar Variation Id: 693671
ClinVar RCV Id: RCV000855051
dbSNP Id: rs879039557
MyVariant Identifiers: chrMT:g.14129C>T (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.14129C>T , J01415.2:m.14129C>T GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361567.2:c.1793C>T ENSP00000354813.2:p.Thr598Ile