Allele Registry

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Canonical Allele Identifier: CA340929

Gene: MT-ATP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 9650

ClinVar RCV Id: RCV000010285 RCV000754649 RCV001543462 RCV001542708 RCV002221473

dbSNP Id: rs199476135

MyVariant Identifiers: chrMT:g.9176T>G (hg38)

PubMed: PMID:11245730 PMID:11731285 PMID:19454486 PMID:20301352

ERepo: CA340929/MONDO:0044970/014

Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.9176T>G , J01415.2:m.9176T>G	GRCh38

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361899.2:c.650T>G	ENSP00000354632.2:p.Leu217Arg

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