Allele Registry

Canonical Allele Identifier: CA414799043

Gene: MT-ATP6 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.8936T>A

Linked Data - NCBI & NCI

ClinVar Allele:

1161635

ClinVar RCV:

RCV001526414

ClinVar Variation:

1172526

dbSNP:

1603221920

Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.8936T>A , J01415.2:m.8936T>A	GRCh38

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361899.2:c.410T>A	ENSP00000354632.2:p.Leu137His

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