Allele Registry

Canonical Allele Identifier: CA120639

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.10158T>C

Linked Data - NCBI & NCI

ClinVar Allele:

24753

ClinVar RCV:

RCV000010360

RCV000144009

RCV000224598

RCV001796716

ClinVar Variation:

9714

dbSNP:

199476117

Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.10158T>C , J01415.2:m.10158T>C	GRCh38

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361227.2:c.100T>C	ENSP00000355206.2:p.Ser34Pro

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