Allele Registry

Canonical Allele Identifier: CA345914

Gene: MT-ATP6 HGNC NCBI

Linked Data - Expert Curation

ClinGen Evidence Repository:

Classification Likely Pathogenic

Condition mitochondrial disease

VCEP Mitochondrial Diseases VCEP

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chrMT:g.9191T>C

Linked Data - NCBI & NCI

ClinVar Allele:

48652

ClinVar RCV:

RCV000144006

RCV002221481

ClinVar Variation:

40153

dbSNP:

1556423632

Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.9191T>C , J01415.2:m.9191T>C	GRCh38

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361899.2:c.665T>C	ENSP00000354632.2:p.Leu222Pro

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