Canonical Allele Identifier: CA412395217
Gene: PDHA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.19357689A>T , CM000685.2:g.19357689A>T GRCh38
NC_000023.10:g.19375807A>T , CM000685.1:g.19375807A>T GRCh37
NC_000023.9:g.19285728A>T NCBI36
NG_016781.1:g.18797A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355808.10:c.890A>T ENSP00000348062.6:p.His297Leu
ENST00000379805.4:c.*561A>T ENSP00000369133.3:n.*561A>T
ENST00000417819.6:c.953A>T ENSP00000404616.2:p.His318Leu
ENST00000423505.6:c.983A>T ENSP00000406473.2:p.His328Leu
ENST00000481733.2:n.664A>T
ENST00000696704.1:c.*201A>T ENSP00000512823.1:n.*201A>T
ENST00000696705.1:c.*324A>T ENSP00000512824.1:n.*324A>T
ENST00000422285.7:c.869A>T MANE Select ENSP00000394382.2:p.His290Leu
ENST00000379804.1:c.26A>T ENSP00000369132.1:p.His9Leu
ENST00000379806.9:c.983A>T ENSP00000369134.5:p.His328Leu
ENST00000422285.6:c.869A>T ENSP00000394382.2:p.His290Leu
ENST00000478795.1:n.308A>T
ENST00000481733.1:n.297A>T
ENST00000540249.5:c.776A>T ENSP00000440761.1:p.His259Leu
ENST00000545074.5:c.890A>T ENSP00000438550.1:p.His297Leu
NM_000284.3:c.869A>T NP_000275.1:p.His290Leu
NM_001173454.1:c.983A>T NP_001166925.1:p.His328Leu
NM_001173455.1:c.890A>T NP_001166926.1:p.His297Leu
NM_001173456.1:c.776A>T NP_001166927.1:p.His259Leu
XM_011545531.1:c.1004A>T XP_011543833.1:p.His335Leu
XM_011545532.1:c.911A>T XP_011543834.1:p.His304Leu
XM_017029574.2:c.890A>T XP_016885063.1:p.His297Leu
NM_000284.4:c.869A>T MANE Select NP_000275.1:p.His290Leu
NM_001173454.2:c.983A>T NP_001166925.1:p.His328Leu
NM_001173455.2:c.890A>T NP_001166926.1:p.His297Leu
NM_001173456.2:c.776A>T NP_001166927.1:p.His259Leu