ClinGen Allele Registry
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Canonical Allele Identifier:
CA414796592
Gene: MT-ATP8
HGNC
NCBI
MT-ATP6
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chrMT:g.8543T>A (hg38)
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Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.8543T>A , J01415.2:m.8543T>A
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361851.1:c.178T>A
(MT-ATP8)
ENSP00000355265.1:p.Ser60Thr
ENST00000361899.2:c.17T>A
(MT-ATP6)
ENSP00000354632.2:p.Phe6Tyr
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