Canonical Allele Identifier: CA414796596
Gene: MT-ATP8 HGNC NCBI
MT-ATP6 HGNC NCBI

Linked Data

MyVariant Identifiers: chrMT:g.8543T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.8543T>G , J01415.2:m.8543T>G GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361851.1:c.178T>G (MT-ATP8) ENSP00000355265.1:p.Ser60Ala
ENST00000361899.2:c.17T>G (MT-ATP6) ENSP00000354632.2:p.Phe6Cys
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