Canonical Allele Identifier: CA412394283

Gene: PDHA1

Linked Data

• ClinVar Variation Id: 521416
• ClinVar RCV Id: RCV000623785
• dbSNP Id: rs1555934336
• MyVariant Identifiers: chrX:g.19373479G>C (hg19) ; chrX:g.19355361G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355361G>C , CM000685.2:g.19355361G>C	GRCh38
NC_000023.10:g.19373479G>C , CM000685.1:g.19373479G>C	GRCh37
NC_000023.9:g.19283400G>C	NCBI36
NG_016781.1:g.16469G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.637G>C	ENSP00000348062.6:p.Glu213Gln
ENST00000379805.4:c.*308G>C	ENSP00000369133.3:n.*308G>C
ENST00000417819.6:c.700G>C	ENSP00000404616.2:p.Glu234Gln
ENST00000423505.6:c.730G>C	ENSP00000406473.2:p.Glu244Gln
ENST00000481733.2:n.411G>C
ENST00000696704.1:c.431G>C	ENSP00000512823.1:p.Arg144Pro
ENST00000696705.1:c.*71G>C	ENSP00000512824.1:n.*71G>C
ENST00000422285.7:c.616G>C MANE Select	ENSP00000394382.2:p.Glu206Gln
ENST00000379806.9:c.730G>C	ENSP00000369134.5:p.Glu244Gln
ENST00000422285.6:c.616G>C	ENSP00000394382.2:p.Glu206Gln
ENST00000479146.1:n.451G>C
ENST00000481733.1:n.44G>C
ENST00000540249.5:c.523G>C	ENSP00000440761.1:p.Glu175Gln
ENST00000545074.5:c.637G>C	ENSP00000438550.1:p.Glu213Gln
NM_000284.3:c.616G>C	NP_000275.1:p.Glu206Gln
NM_001173454.1:c.730G>C	NP_001166925.1:p.Glu244Gln
NM_001173455.1:c.637G>C	NP_001166926.1:p.Glu213Gln
NM_001173456.1:c.523G>C	NP_001166927.1:p.Glu175Gln
XM_011545531.1:c.751G>C	XP_011543833.1:p.Glu251Gln
XM_011545532.1:c.658G>C	XP_011543834.1:p.Glu220Gln
XM_017029574.2:c.637G>C	XP_016885063.1:p.Glu213Gln
NM_000284.4:c.616G>C MANE Select	NP_000275.1:p.Glu206Gln
NM_001173454.2:c.730G>C	NP_001166925.1:p.Glu244Gln
NM_001173455.2:c.637G>C	NP_001166926.1:p.Glu213Gln
NM_001173456.2:c.523G>C	NP_001166927.1:p.Glu175Gln