Allele Registry

Canonical Allele Identifier: CA345910

Gene: MT-ND1 HGNC NCBI

Linked Data - Expert Curation

ClinGen Evidence Repository:

Classification Uncertain Significance

Condition mitochondrial disease

VCEP Mitochondrial Diseases VCEP

Linked Data - Predicted Effect Evidence

MyVariant.info:

GRCh38 chrMT:g.3481G>A

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000143999

RCV000853660

ClinVar Variation:

155880

dbSNP:

587776433

Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.3481G>A , J01415.2:m.3481G>A	GRCh38

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361390.2:c.175G>A	ENSP00000354687.2:p.Glu59Lys

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