Canonical Allele Identifier: CA10581248
Gene: MT-ATP8 HGNC NCBI
MT-ATP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 235227
ClinVar RCV Id: RCV000224948 RCV000854224
dbSNP Id: rs878852987
MyVariant Identifiers: chrMT:g.8540T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.8540T>C , J01415.2:m.8540T>C GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361851.1:c.175T>C (MT-ATP8) ENSP00000355265.1:p.Cys59Arg
ENST00000361899.2:c.14T>C (MT-ATP6) ENSP00000354632.2:p.Leu5Pro
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