Canonical Allele Identifier: CA515486368
Gene: PDHA1 HGNC NCBI

Linked Data

gnomAD v4: X-19358997-C-T
MyVariant Identifiers: chrX:g.19377115C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.19358997C>T , CM000685.2:g.19358997C>T GRCh38
NC_000023.10:g.19377115C>T , CM000685.1:g.19377115C>T GRCh37
NC_000023.9:g.19287036C>T NCBI36
NG_016781.1:g.20105C>T
NG_021184.1:g.161265G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355808.10:c.1002C>T ENSP00000348062.6:p.Ser334=
ENST00000379805.4:c.*673C>T ENSP00000369133.3:n.*673C>T
ENST00000417819.6:c.1065C>T ENSP00000404616.2:p.Ser355=
ENST00000423505.6:c.1095C>T ENSP00000406473.2:p.Ser365=
ENST00000481733.2:n.776C>T
ENST00000696704.1:c.*313C>T ENSP00000512823.1:n.*313C>T
ENST00000696705.1:c.*436C>T ENSP00000512824.1:n.*436C>T
ENST00000422285.7:c.981C>T MANE Select ENSP00000394382.2:p.Ser327=
ENST00000379804.1:c.138C>T ENSP00000369132.1:p.Ser46=
ENST00000379806.9:c.1095C>T ENSP00000369134.5:p.Ser365=
ENST00000422285.6:c.981C>T ENSP00000394382.2:p.Ser327=
ENST00000478795.1:n.420C>T
ENST00000481733.1:n.409C>T
ENST00000540249.5:c.888C>T ENSP00000440761.1:p.Ser296=
ENST00000545074.5:c.1002C>T ENSP00000438550.1:p.Ser334=
NM_000284.3:c.981C>T NP_000275.1:p.Ser327=
NM_001173454.1:c.1095C>T NP_001166925.1:p.Ser365=
NM_001173455.1:c.1002C>T NP_001166926.1:p.Ser334=
NM_001173456.1:c.888C>T NP_001166927.1:p.Ser296=
XM_011545531.1:c.1116C>T XP_011543833.1:p.Ser372=
XM_011545532.1:c.1023C>T XP_011543834.1:p.Ser341=
XM_017029574.2:c.1002C>T XP_016885063.1:p.Ser334=
NM_000284.4:c.981C>T MANE Select NP_000275.1:p.Ser327=
NM_001173454.2:c.1095C>T NP_001166925.1:p.Ser365=
NM_001173455.2:c.1002C>T NP_001166926.1:p.Ser334=
NM_001173456.2:c.888C>T NP_001166927.1:p.Ser296=