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)
ERepo: CA340929/MONDO:0044970/014
PubMed: PMID:11245730 PMID:11731285 PMID:19454486 PMID:20301352
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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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