Canonical Allele Identifier: CA414796539
Gene: MT-ATP8 HGNC NCBI
MT-ATP6 HGNC NCBI

Linked Data

MyVariant Identifiers: chrMT:g.8532C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.8532C>G , J01415.2:m.8532C>G GRCh38

Transcript Alleles

HGVS Amino-acid change
ENST00000361851.1:c.167C>G (MT-ATP8) ENSP00000355265.1:p.Thr56Arg
ENST00000361899.2:c.6C>G (MT-ATP6) ENSP00000354632.2:p.Asn2Lys
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