Allele Registry

Canonical Allele Identifier: CA340935

Gene: MT-ND5 HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chrMT:g.13708G>A

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000010336

RCV000854970

ClinVar Variation:

9696

dbSNP:

28359178

Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.13708G>A , J01415.2:m.13708G>A	GRCh38

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361567.2:c.1372G>A	ENSP00000354813.2:p.Ala458Thr

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