Allele Registry

Canonical Allele Identifier: CA414816540

Gene: MT-ND5 HGNC NCBI

Linked Data - Expert Curation

ClinGen Evidence Repository:

Classification Pathogenic

Condition mitochondrial disease

VCEP Mitochondrial Diseases VCEP

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chrMT:g.13094T>C

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000854891

RCV002249552

RCV002291219

ClinVar Variation:

693516

dbSNP:

1603224029

Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.13094T>C , J01415.2:m.13094T>C	GRCh38

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361567.2:c.758T>C	ENSP00000354813.2:p.Val253Ala

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