Canonical Allele Identifier: CA121214
Gene: PDHA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 10879
dbSNP Id: rs137853252
gnomAD v4: X-19358920-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.19358920C>T , CM000685.2:g.19358920C>T GRCh38
NC_000023.10:g.19377038C>T , CM000685.1:g.19377038C>T GRCh37
NC_000023.9:g.19286959C>T NCBI36
NG_016781.1:g.20028C>T
NG_021184.1:g.161342G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000355808.10:c.925C>T ENSP00000348062.6:p.Arg309Cys
ENST00000379805.4:c.*596C>T ENSP00000369133.3:n.*596C>T
ENST00000417819.6:c.988C>T ENSP00000404616.2:p.Arg330Cys
ENST00000423505.6:c.1018C>T ENSP00000406473.2:p.Arg340Cys
ENST00000481733.2:n.699C>T
ENST00000696704.1:c.*236C>T ENSP00000512823.1:n.*236C>T
ENST00000696705.1:c.*359C>T ENSP00000512824.1:n.*359C>T
ENST00000422285.7:c.904C>T MANE Select ENSP00000394382.2:p.Arg302Cys
ENST00000379804.1:c.61C>T ENSP00000369132.1:p.Arg21Cys
ENST00000379806.9:c.1018C>T ENSP00000369134.5:p.Arg340Cys
ENST00000422285.6:c.904C>T ENSP00000394382.2:p.Arg302Cys
ENST00000478795.1:n.343C>T
ENST00000481733.1:n.332C>T
ENST00000540249.5:c.811C>T ENSP00000440761.1:p.Arg271Cys
ENST00000545074.5:c.925C>T ENSP00000438550.1:p.Arg309Cys
NM_000284.3:c.904C>T NP_000275.1:p.Arg302Cys
NM_001173454.1:c.1018C>T NP_001166925.1:p.Arg340Cys
NM_001173455.1:c.925C>T NP_001166926.1:p.Arg309Cys
NM_001173456.1:c.811C>T NP_001166927.1:p.Arg271Cys
XM_011545531.1:c.1039C>T XP_011543833.1:p.Arg347Cys
XM_011545532.1:c.946C>T XP_011543834.1:p.Arg316Cys
XM_017029574.2:c.925C>T XP_016885063.1:p.Arg309Cys
NM_000284.4:c.904C>T MANE Select NP_000275.1:p.Arg302Cys
NM_001173454.2:c.1018C>T NP_001166925.1:p.Arg340Cys
NM_001173455.2:c.925C>T NP_001166926.1:p.Arg309Cys
NM_001173456.2:c.811C>T NP_001166927.1:p.Arg271Cys