Canonical Allele Identifier: CA16608805
Gene: PDHA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 384555
ClinVar RCV Id: RCV000427505 RCV001250113
dbSNP Id: rs1057521993
MyVariant Identifiers: chrX:g.19375770G>A (hg19) chrX:g.19357652G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.19357652G>A , CM000685.2:g.19357652G>A GRCh38
NC_000023.10:g.19375770G>A , CM000685.1:g.19375770G>A GRCh37
NC_000023.9:g.19285691G>A NCBI36
NG_016781.1:g.18760G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000355808.10:c.853G>A ENSP00000348062.6:p.Gly285Arg
ENST00000379805.4:c.*524G>A ENSP00000369133.3:n.*524G>A
ENST00000417819.6:c.916G>A ENSP00000404616.2:p.Gly306Arg
ENST00000423505.6:c.946G>A ENSP00000406473.2:p.Gly316Arg
ENST00000481733.2:n.627G>A
ENST00000696704.1:c.*164G>A ENSP00000512823.1:n.*164G>A
ENST00000696705.1:c.*287G>A ENSP00000512824.1:n.*287G>A
ENST00000422285.7:c.832G>A MANE Select ENSP00000394382.2:p.Gly278Arg
ENST00000379804.1:c.-12G>A ENSP00000369132.1:n.-12G>A
ENST00000379806.9:c.946G>A ENSP00000369134.5:p.Gly316Arg
ENST00000422285.6:c.832G>A ENSP00000394382.2:p.Gly278Arg
ENST00000478795.1:n.271G>A
ENST00000481733.1:n.260G>A
ENST00000540249.5:c.739G>A ENSP00000440761.1:p.Gly247Arg
ENST00000545074.5:c.853G>A ENSP00000438550.1:p.Gly285Arg
NM_000284.3:c.832G>A NP_000275.1:p.Gly278Arg
NM_001173454.1:c.946G>A NP_001166925.1:p.Gly316Arg
NM_001173455.1:c.853G>A NP_001166926.1:p.Gly285Arg
NM_001173456.1:c.739G>A NP_001166927.1:p.Gly247Arg
XM_011545531.1:c.967G>A XP_011543833.1:p.Gly323Arg
XM_011545532.1:c.874G>A XP_011543834.1:p.Gly292Arg
XM_017029574.2:c.853G>A XP_016885063.1:p.Gly285Arg
NM_000284.4:c.832G>A MANE Select NP_000275.1:p.Gly278Arg
NM_001173454.2:c.946G>A NP_001166925.1:p.Gly316Arg
NM_001173455.2:c.853G>A NP_001166926.1:p.Gly285Arg
NM_001173456.2:c.739G>A NP_001166927.1:p.Gly247Arg
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