Allele Registry

Canonical Allele Identifier: CA414796680

Gene: MT-ATP8 HGNC NCBI
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.8557G>A

Linked Data - NCBI & NCI

ClinVar Allele:

681436

ClinVar RCV:

RCV000854235

RCV002221592

ClinVar Variation:

692900

dbSNP:

386829040

Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.8557G>A , J01415.2:m.8557G>A	GRCh38

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361851.1:c.192G>A (MT-ATP8)	ENSP00000355265.1:p.Leu64=
ENST00000361899.2:c.31G>A (MT-ATP6)	ENSP00000354632.2:p.Ala11Thr

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