Canonical Allele Identifier: CA414796661
Gene: MT-ATP8 HGNC NCBI
MT-ATP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 618720
ClinVar RCV Id: RCV000757478 RCV000854233
dbSNP Id: rs1569484219
MyVariant Identifiers: chrMT:g.8553C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.8553C>T , J01415.2:m.8553C>T GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361851.1:c.188C>T (MT-ATP8) ENSP00000355265.1:p.Ser63Leu
ENST00000361899.2:c.27C>T (MT-ATP6) ENSP00000354632.2:p.Phe9=
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