Allele Registry

Canonical Allele Identifier: CA337098034

Gene: MT-ATP6 HGNC NCBI

Linked Data - Expert Curation

COSMIC:

COSM488775

COSM1138408

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chrMT:g.8794C>T

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000854326

ClinVar Variation:

692987

dbSNP:

2298007

Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.8794C>T , J01415.2:m.8794C>T	GRCh38

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361899.2:c.268C>T	ENSP00000354632.2:p.His90Tyr

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