Canonical Allele Identifier: CA414812899
Gene: MT-ND5 HGNC NCBI

Linked Data

ClinVar Variation Id: 693429
ClinVar RCV Id: RCV000854799
dbSNP Id: rs1603223707
MyVariant Identifiers: chrMT:g.12382A>G (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.12382A>G , J01415.2:m.12382A>G GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361567.2:c.46A>G ENSP00000354813.2:p.Ile16Val