Allele Registry

Canonical Allele Identifier: CA10581280

Gene: MT-ATP6 HGNC NCBI

Linked Data - Expert Curation

ClinGen Evidence Repository:

Classification Benign

Condition mitochondrial disease

VCEP Mitochondrial Diseases VCEP

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chrMT:g.8932C>T

Linked Data - NCBI & NCI

ClinVar Allele:

237030

ClinVar RCV:

RCV000224223

RCV000854366

RCV001526415

ClinVar Variation:

235343

dbSNP:

878853013

Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.8932C>T , J01415.2:m.8932C>T	GRCh38

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361899.2:c.406C>T	ENSP00000354632.2:p.Pro136Ser

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