Canonical Allele Identifier: CA414820534
Gene: MT-ND5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1709050
ClinVar RCV Id: RCV002288334
MyVariant Identifiers: chrMT:g.14021T>C (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.14021T>C , J01415.2:m.14021T>C GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361567.2:c.1685T>C ENSP00000354813.2:p.Leu562Ser