Allele Registry

Canonical Allele Identifier: CA337098169

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.9055G>A

Linked Data - NCBI & NCI

ClinVar Allele:

681603

ClinVar RCV:

RCV000854413

RCV001796802

ClinVar Variation:

693067

dbSNP:

193303045

Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.9055G>A , J01415.2:m.9055G>A	GRCh38

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361899.2:c.529G>A	ENSP00000354632.2:p.Ala177Thr

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