Canonical Allele Identifier: CA414818189
Gene: MT-ND5 HGNC NCBI

Linked Data

ClinVar Variation Id: 693563
ClinVar RCV Id: RCV000854938
dbSNP Id: rs1603224204
MyVariant Identifiers: chrMT:g.13484T>C (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.13484T>C , J01415.2:m.13484T>C GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361567.2:c.1148T>C ENSP00000354813.2:p.Ile383Thr