Canonical Allele Identifier: CA414814590
Gene: MT-ND5 HGNC NCBI

Linked Data

dbSNP Id: rs1603223881
COSMIC: COSM218996
MyVariant Identifiers: chrMT:g.12731T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.12731T>C , J01415.2:m.12731T>C GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361567.2:c.395T>C ENSP00000354813.2:p.Val132Ala
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