Allele Registry

Canonical Allele Identifier: CA120637

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.10191T>C

Linked Data - NCBI & NCI

ClinVar Allele:

24751

ClinVar RCV:

RCV000010358

RCV000144010

RCV001542636

RCV002291212

ClinVar Variation:

9712

dbSNP:

267606890

Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.10191T>C , J01415.2:m.10191T>C	GRCh38

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361227.2:c.133T>C	ENSP00000355206.2:p.Ser45Pro

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