Allele Registry

Canonical Allele Identifier: CA120629

Gene: MT-ND5 HGNC NCBI

Linked Data - Expert Curation

ClinGen Evidence Repository:

Classification Uncertain Significance

Condition mitochondrial disease

VCEP Mitochondrial Diseases VCEP

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chrMT:g.13045A>C

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000010340

RCV000010341

RCV000010342

ClinVar Variation:

9700

dbSNP:

267606895

Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.13045A>C , J01415.2:m.13045A>C	GRCh38

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361567.2:c.709A>C	ENSP00000354813.2:p.Ile237Leu

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