Canonical Allele Identifier: CA412394774

Gene: PDHA1

Linked Data

• ClinVar Variation Id: 1184474
• ClinVar RCV Id: RCV001542510
• dbSNP Id: rs2063192428
• MyVariant Identifiers: chrX:g.19373832G>C (hg19) ; chrX:g.19355714G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355714G>C , CM000685.2:g.19355714G>C	GRCh38
NC_000023.10:g.19373832G>C , CM000685.1:g.19373832G>C	GRCh37
NC_000023.9:g.19283753G>C	NCBI36
NG_016781.1:g.16822G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.809G>C	ENSP00000348062.6:p.Arg270Pro
ENST00000379805.4:c.*480G>C	ENSP00000369133.3:n.*480G>C
ENST00000417819.6:c.872G>C	ENSP00000404616.2:p.Arg291Pro
ENST00000423505.6:c.902G>C	ENSP00000406473.2:p.Arg301Pro
ENST00000481733.2:n.583G>C
ENST00000696704.1:c.*120G>C	ENSP00000512823.1:n.*120G>C
ENST00000696705.1:c.*243G>C	ENSP00000512824.1:n.*243G>C
ENST00000422285.7:c.788G>C MANE Select	ENSP00000394382.2:p.Arg263Pro
ENST00000379804.1:c.-56G>C	ENSP00000369132.1:n.-56G>C
ENST00000379806.9:c.902G>C	ENSP00000369134.5:p.Arg301Pro
ENST00000422285.6:c.788G>C	ENSP00000394382.2:p.Arg263Pro
ENST00000481733.1:n.216G>C
ENST00000540249.5:c.695G>C	ENSP00000440761.1:p.Arg232Pro
ENST00000545074.5:c.809G>C	ENSP00000438550.1:p.Arg270Pro
NM_000284.3:c.788G>C	NP_000275.1:p.Arg263Pro
NM_001173454.1:c.902G>C	NP_001166925.1:p.Arg301Pro
NM_001173455.1:c.809G>C	NP_001166926.1:p.Arg270Pro
NM_001173456.1:c.695G>C	NP_001166927.1:p.Arg232Pro
XM_011545531.1:c.923G>C	XP_011543833.1:p.Arg308Pro
XM_011545532.1:c.830G>C	XP_011543834.1:p.Arg277Pro
XM_017029574.2:c.809G>C	XP_016885063.1:p.Arg270Pro
NM_000284.4:c.788G>C MANE Select	NP_000275.1:p.Arg263Pro
NM_001173454.2:c.902G>C	NP_001166925.1:p.Arg301Pro
NM_001173455.2:c.809G>C	NP_001166926.1:p.Arg270Pro
NM_001173456.2:c.695G>C	NP_001166927.1:p.Arg232Pro