Allele Registry

Canonical Allele Identifier: CA16603348

Gene: MT-ND1 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.4132G>A

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000426885

RCV000853737

ClinVar Variation:

377340

dbSNP:

1057520201

Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.4132G>A , J01415.2:m.4132G>A	GRCh38

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361390.2:c.826G>A	ENSP00000354687.2:p.Ala276Thr

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