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)
ERepo: CA120597/MONDO:0044970/014
PubMed: PMID:7668837 PMID:9270604 PMID:9501263 PMID:9631394 PMID:20301352
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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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