Allele Registry

Canonical Allele Identifier: CA414772609

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.3357G>C

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000853643

RCV001249404

RCV001796800

ClinVar Variation:

692343

dbSNP:

1556422714

Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.3357G>C , J01415.2:m.3357G>C	GRCh38

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361390.2:c.51G>C	ENSP00000354687.2:p.Met17Ile

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