Canonical Allele Identifier: CA414796580
Gene: MT-ATP8 HGNC NCBI
MT-ATP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 692891
ClinVar RCV Id: RCV000854225
dbSNP Id: rs1569484218
MyVariant Identifiers: chrMT:g.8541G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.8541G>A , J01415.2:m.8541G>A GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361851.1:c.176G>A (MT-ATP8) ENSP00000355265.1:p.Cys59Tyr
ENST00000361899.2:c.15G>A (MT-ATP6) ENSP00000354632.2:p.Leu5=
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