Allele Registry

Canonical Allele Identifier: CA120633

Gene: MT-ND5 HGNC NCBI

Linked Data - Expert Curation

ClinGen Evidence Repository:

Classification Likely Pathogenic

Condition mitochondrial disease

VCEP Mitochondrial Diseases VCEP

COSMIC:

COSM5652748

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chrMT:g.13042G>A

Linked Data - NCBI & NCI

ClinVar Allele:

24742

ClinVar RCV:

RCV000010347

RCV000010348

RCV000010349

RCV000854885

RCV002260592

ClinVar Variation:

9703

dbSNP:

267606898

Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.13042G>A , J01415.2:m.13042G>A	GRCh38

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361567.2:c.706G>A	ENSP00000354813.2:p.Ala236Thr

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