Canonical Allele Identifier: CA2418222112
Gene: PDHA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.19351337A= , CM000685.2:g.19351337A= GRCh38
NC_000023.10:g.19369455A= , CM000685.1:g.19369455A= GRCh37
NC_000023.9:g.19279376A= NCBI36
NG_016781.1:g.12445A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000355808.10:c.369A= ENSP00000348062.6:p.Thr123=
ENST00000379805.4:c.348A= ENSP00000369133.3:p.Thr116=
ENST00000417819.6:c.432A= ENSP00000404616.2:p.Thr144=
ENST00000423505.6:c.462A= ENSP00000406473.2:p.Thr154=
ENST00000696704.1:c.348A= ENSP00000512823.1:p.Thr116=
ENST00000696705.1:c.348A= ENSP00000512824.1:p.Thr116=
ENST00000422285.7:c.348A= MANE Select ENSP00000394382.2:p.Thr116=
ENST00000355808.9:c.369A= ENSP00000348062.5:p.Thr123=
ENST00000379805.3:c.348A= ENSP00000369133.3:p.Thr116=
ENST00000379806.9:c.462A= ENSP00000369134.5:p.Thr154=
ENST00000422285.6:c.348A= ENSP00000394382.2:p.Thr116=
ENST00000423505.5:c.462A= ENSP00000406473.1:p.Thr154=
ENST00000492364.1:n.450A=
ENST00000540249.5:c.348A= ENSP00000440761.1:p.Thr116=
ENST00000545074.5:c.369A= ENSP00000438550.1:p.Thr123=
NM_000284.3:c.348A= NP_000275.1:p.Thr116=
NM_001173454.1:c.462A= NP_001166925.1:p.Thr154=
NM_001173455.1:c.369A= NP_001166926.1:p.Thr123=
NM_001173456.1:c.348A= NP_001166927.1:p.Thr116=
XM_011545531.1:c.483A= XP_011543833.1:p.Thr161=
XM_011545532.1:c.483A= XP_011543834.1:p.Thr161=
XM_017029574.2:c.462A= XP_016885063.1:p.Thr154=
NM_000284.4:c.348A= MANE Select NP_000275.1:p.Thr116=
NM_001173454.2:c.462A= NP_001166925.1:p.Thr154=
NM_001173455.2:c.369A= NP_001166926.1:p.Thr123=
NM_001173456.2:c.348A= NP_001166927.1:p.Thr116=