Allele Registry

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Canonical Allele Identifier: CA120597

Gene: MT-ATP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 9644

ClinVar RCV Id: RCV000010279 RCV000010278 RCV000754652 RCV001027501 RCV001542707 RCV002251425 RCV002260585 RCV004554599

dbSNP Id: rs199476135

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

PubMed: PMID:7668837 PMID:9270604 PMID:9501263 PMID:9631394 PMID:20301352

ERepo: CA120597/MONDO:0044970/014

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361899.2:c.650T>C	ENSP00000354632.2:p.Leu217Pro

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