Canonical Allele Identifier: CA344821
Gene: MT-ND5 HGNC NCBI

Linked Data

ClinVar Variation Id: 65510
ClinVar RCV Id: RCV000055698 RCV000507393 RCV000854857
dbSNP Id: rs199974018
MyVariant Identifiers: chrMT:g.12811T>C (hg38)
PubMed: PMID:20301353
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.12811T>C , J01415.2:m.12811T>C GRCh38

Transcript Alleles

HGVS Amino-acid change
ENST00000361567.2:c.475T>C ENSP00000354813.2:p.Tyr159His
Search 100 bp 5'
Search 100 bp 3'