Canonical Allele Identifier: CA414796614
Gene: MT-ATP8 HGNC NCBI
MT-ATP6 HGNC NCBI

Linked Data

MyVariant Identifiers: chrMT:g.8546C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.8546C>T , J01415.2:m.8546C>T GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361851.1:c.181C>T (MT-ATP8) ENSP00000355265.1:p.Leu61Phe
ENST00000361899.2:c.20C>T (MT-ATP6) ENSP00000354632.2:p.Ala7Val
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