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Canonical Allele Identifier:
CA414796533
Gene: MT-ATP8
HGNC
NCBI
MT-ATP6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
692888
ClinVar RCV Id:
RCV000854221
dbSNP Id:
rs1556423481
MyVariant Identifiers:
chrMT:g.8531A>G (hg38)
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Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.8531A>G , J01415.2:m.8531A>G
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361851.1:c.166A>G
(MT-ATP8)
ENSP00000355265.1:p.Thr56Ala
ENST00000361899.2:c.5A>G
(MT-ATP6)
ENSP00000354632.2:p.Asn2Ser
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