Canonical Allele Identifier: CA412396049

Gene: PDHA1

Linked Data

• gnomAD v4: X-19358924-C-T
• MyVariant Identifiers: chrX:g.19377042C>T (hg19) ; chrX:g.19358924C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19358924C>T , CM000685.2:g.19358924C>T	GRCh38
NC_000023.10:g.19377042C>T , CM000685.1:g.19377042C>T	GRCh37
NC_000023.9:g.19286963C>T	NCBI36
NG_016781.1:g.20032C>T
NG_021184.1:g.161338G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.929C>T	ENSP00000348062.6:p.Thr310Ile
ENST00000379805.4:c.*600C>T	ENSP00000369133.3:n.*600C>T
ENST00000417819.6:c.992C>T	ENSP00000404616.2:p.Thr331Ile
ENST00000423505.6:c.1022C>T	ENSP00000406473.2:p.Thr341Ile
ENST00000481733.2:n.703C>T
ENST00000696704.1:c.*240C>T	ENSP00000512823.1:n.*240C>T
ENST00000696705.1:c.*363C>T	ENSP00000512824.1:n.*363C>T
ENST00000422285.7:c.908C>T MANE Select	ENSP00000394382.2:p.Thr303Ile
ENST00000379804.1:c.65C>T	ENSP00000369132.1:p.Thr22Ile
ENST00000379806.9:c.1022C>T	ENSP00000369134.5:p.Thr341Ile
ENST00000422285.6:c.908C>T	ENSP00000394382.2:p.Thr303Ile
ENST00000478795.1:n.347C>T
ENST00000481733.1:n.336C>T
ENST00000540249.5:c.815C>T	ENSP00000440761.1:p.Thr272Ile
ENST00000545074.5:c.929C>T	ENSP00000438550.1:p.Thr310Ile
NM_000284.3:c.908C>T	NP_000275.1:p.Thr303Ile
NM_001173454.1:c.1022C>T	NP_001166925.1:p.Thr341Ile
NM_001173455.1:c.929C>T	NP_001166926.1:p.Thr310Ile
NM_001173456.1:c.815C>T	NP_001166927.1:p.Thr272Ile
XM_011545531.1:c.1043C>T	XP_011543833.1:p.Thr348Ile
XM_011545532.1:c.950C>T	XP_011543834.1:p.Thr317Ile
XM_017029574.2:c.929C>T	XP_016885063.1:p.Thr310Ile
NM_000284.4:c.908C>T MANE Select	NP_000275.1:p.Thr303Ile
NM_001173454.2:c.1022C>T	NP_001166925.1:p.Thr341Ile
NM_001173455.2:c.929C>T	NP_001166926.1:p.Thr310Ile
NM_001173456.2:c.815C>T	NP_001166927.1:p.Thr272Ile