Canonical Allele Identifier: CA414813765
Gene: MT-ND5 HGNC NCBI

Linked Data

ClinVar Variation Id: 693465
ClinVar RCV Id: RCV000854837
dbSNP Id: rs28759201
MyVariant Identifiers: chrMT:g.12561G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.12561G>C , J01415.2:m.12561G>C GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361567.2:c.225G>C ENSP00000354813.2:p.Gln75His
Search 100 bp 5'
Search 100 bp 3'