Allele Registry

Canonical Allele Identifier: CA120640

Gene: MT-ND3 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.10197G>A

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000010362

RCV000010363

RCV000144011

RCV000507278

RCV002247309

RCV002285008

RCV002291213

RCV004017234

ClinVar Variation:

9715

dbSNP:

267606891

Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.10197G>A , J01415.2:m.10197G>A	GRCh38

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361227.2:c.139G>A	ENSP00000355206.2:p.Ala47Thr

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