Canonical Allele Identifier: CA414816093
Gene: MT-ND5 HGNC NCBI

Linked Data

ClinVar Variation Id: 430689
ClinVar RCV Id: RCV000495629 RCV000854887
dbSNP Id: rs1131692063
MyVariant Identifiers: chrMT:g.13051G>A (hg38)
ERepo: CA414816093/MONDO:0044970/014
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.13051G>A , J01415.2:m.13051G>A GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361567.2:c.715G>A ENSP00000354813.2:p.Gly239Ser
Search 100 bp 5'
Search 100 bp 3'