Canonical Allele Identifier: CA412395149

Gene: PDHA1

Linked Data

• gnomAD v4: X-19357659-T-C
• MyVariant Identifiers: chrX:g.19375777T>C (hg19) ; chrX:g.19357659T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19357659T>C , CM000685.2:g.19357659T>C	GRCh38
NC_000023.10:g.19375777T>C , CM000685.1:g.19375777T>C	GRCh37
NC_000023.9:g.19285698T>C	NCBI36
NG_016781.1:g.18767T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.860T>C	ENSP00000348062.6:p.Ile287Thr
ENST00000379805.4:c.*531T>C	ENSP00000369133.3:n.*531T>C
ENST00000417819.6:c.923T>C	ENSP00000404616.2:p.Ile308Thr
ENST00000423505.6:c.953T>C	ENSP00000406473.2:p.Ile318Thr
ENST00000481733.2:n.634T>C
ENST00000696704.1:c.*171T>C	ENSP00000512823.1:n.*171T>C
ENST00000696705.1:c.*294T>C	ENSP00000512824.1:n.*294T>C
ENST00000422285.7:c.839T>C MANE Select	ENSP00000394382.2:p.Ile280Thr
ENST00000379804.1:c.-5T>C	ENSP00000369132.1:n.-5T>C
ENST00000379806.9:c.953T>C	ENSP00000369134.5:p.Ile318Thr
ENST00000422285.6:c.839T>C	ENSP00000394382.2:p.Ile280Thr
ENST00000478795.1:n.278T>C
ENST00000481733.1:n.267T>C
ENST00000540249.5:c.746T>C	ENSP00000440761.1:p.Ile249Thr
ENST00000545074.5:c.860T>C	ENSP00000438550.1:p.Ile287Thr
NM_000284.3:c.839T>C	NP_000275.1:p.Ile280Thr
NM_001173454.1:c.953T>C	NP_001166925.1:p.Ile318Thr
NM_001173455.1:c.860T>C	NP_001166926.1:p.Ile287Thr
NM_001173456.1:c.746T>C	NP_001166927.1:p.Ile249Thr
XM_011545531.1:c.974T>C	XP_011543833.1:p.Ile325Thr
XM_011545532.1:c.881T>C	XP_011543834.1:p.Ile294Thr
XM_017029574.2:c.860T>C	XP_016885063.1:p.Ile287Thr
NM_000284.4:c.839T>C MANE Select	NP_000275.1:p.Ile280Thr
NM_001173454.2:c.953T>C	NP_001166925.1:p.Ile318Thr
NM_001173455.2:c.860T>C	NP_001166926.1:p.Ile287Thr
NM_001173456.2:c.746T>C	NP_001166927.1:p.Ile249Thr