Canonical Allele Identifier: CA414813413
Gene: MT-ND5 HGNC NCBI

Linked Data

ClinVar Variation Id: 446034
ClinVar RCV Id: RCV000514853
dbSNP Id: rs1556424118
MyVariant Identifiers: chrMT:g.12493A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.12493A>G , J01415.2:m.12493A>G GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361567.2:c.157A>G ENSP00000354813.2:p.Ile53Val
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