Allele Registry

Canonical Allele Identifier: CA270779

Gene: MT-ND3 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.10134C>A

Linked Data - NCBI & NCI

ClinVar Allele:

166157

ClinVar RCV:

RCV000144458

RCV003985280

ClinVar Variation:

156375

dbSNP:

587780529

Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.10134C>A , J01415.2:m.10134C>A	GRCh38

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361227.2:c.76C>A	ENSP00000355206.2:p.Gln26Lys

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