Allele Registry

Canonical Allele Identifier: CA120596

Gene: MT-ATP6 HGNC NCBI

Linked Data - Expert Curation

ClinGen Evidence Repository:

Classification Pathogenic

Condition mitochondrial disease

VCEP Mitochondrial Diseases VCEP

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chrMT:g.8993T>C

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000010275

RCV000010276

RCV000495030

RCV000754647

RCV000854390

RCV001268873

RCV002247300

ClinVar Variation:

9642

dbSNP:

199476133

Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.8993T>C , J01415.2:m.8993T>C	GRCh38

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361899.2:c.467T>C	ENSP00000354632.2:p.Leu156Pro

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