Canonical Allele Identifier: CA321113
Gene: PDHA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 214935
dbSNP Id: rs863224146
gnomAD v4: X-19358926-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.19358926C>T , CM000685.2:g.19358926C>T GRCh38
NC_000023.10:g.19377044C>T , CM000685.1:g.19377044C>T GRCh37
NC_000023.9:g.19286965C>T NCBI36
NG_016781.1:g.20034C>T
NG_021184.1:g.161336G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000355808.10:c.931C>T ENSP00000348062.6:p.Arg311Ter
ENST00000379805.4:c.*602C>T ENSP00000369133.3:n.*602C>T
ENST00000417819.6:c.994C>T ENSP00000404616.2:p.Arg332Ter
ENST00000423505.6:c.1024C>T ENSP00000406473.2:p.Arg342Ter
ENST00000481733.2:n.705C>T
ENST00000696704.1:c.*242C>T ENSP00000512823.1:n.*242C>T
ENST00000696705.1:c.*365C>T ENSP00000512824.1:n.*365C>T
ENST00000422285.7:c.910C>T MANE Select ENSP00000394382.2:p.Arg304Ter
ENST00000379804.1:c.67C>T ENSP00000369132.1:p.Arg23Ter
ENST00000379806.9:c.1024C>T ENSP00000369134.5:p.Arg342Ter
ENST00000422285.6:c.910C>T ENSP00000394382.2:p.Arg304Ter
ENST00000478795.1:n.349C>T
ENST00000481733.1:n.338C>T
ENST00000540249.5:c.817C>T ENSP00000440761.1:p.Arg273Ter
ENST00000545074.5:c.931C>T ENSP00000438550.1:p.Arg311Ter
NM_000284.3:c.910C>T NP_000275.1:p.Arg304Ter
NM_001173454.1:c.1024C>T NP_001166925.1:p.Arg342Ter
NM_001173455.1:c.931C>T NP_001166926.1:p.Arg311Ter
NM_001173456.1:c.817C>T NP_001166927.1:p.Arg273Ter
XM_011545531.1:c.1045C>T XP_011543833.1:p.Arg349Ter
XM_011545532.1:c.952C>T XP_011543834.1:p.Arg318Ter
XM_017029574.2:c.931C>T XP_016885063.1:p.Arg311Ter
NM_000284.4:c.910C>T MANE Select NP_000275.1:p.Arg304Ter
NM_001173454.2:c.1024C>T NP_001166925.1:p.Arg342Ter
NM_001173455.2:c.931C>T NP_001166926.1:p.Arg311Ter
NM_001173456.2:c.817C>T NP_001166927.1:p.Arg273Ter