Allele Registry

Canonical Allele Identifier: CA414801916

Gene: MT-ATP6 HGNC NCBI

Linked Data - Expert Curation

ClinGen Evidence Repository:

Classification Uncertain Significance

Condition mitochondrial disease

VCEP Mitochondrial Diseases VCEP

COSMIC:

COSM1155688

COSM1155689

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chrMT:g.9026G>A

Linked Data - NCBI & NCI

ClinVar Allele:

681594

ClinVar RCV:

RCV000854402

RCV001526416

ClinVar Variation:

693058

dbSNP:

1603221987

Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.9026G>A , J01415.2:m.9026G>A	GRCh38

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361899.2:c.500G>A	ENSP00000354632.2:p.Gly167Asp

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