Allele Registry

Canonical Allele Identifier: CA345918

Gene: MT-ND5 HGNC NCBI

Linked Data - Expert Curation

ClinGen Evidence Repository:

Classification Likely Pathogenic

Condition mitochondrial disease

VCEP Mitochondrial Diseases VCEP

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chrMT:g.13514A>G

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000144017

RCV002260618

RCV003333959

ClinVar Variation:

155889

dbSNP:

587776440

Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.13514A>G , J01415.2:m.13514A>G	GRCh38

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361567.2:c.1178A>G	ENSP00000354813.2:p.Asp393Gly

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