Canonical Allele Identifier: CA322243

Gene: PDHA1

Linked Data

• ClinVar Variation Id: 214934
• ClinVar RCV Id: RCV000197779 ; RCV001828028 ; RCV002515420
• dbSNP Id: rs373275701
• gnomAD v2: X-19375792-A-G
• gnomAD v3: X-19357674-A-G
• gnomAD v4: X-19357674-A-G
• MyVariant Identifiers: chrX:g.19375792A>G (hg19) ; chrX:g.19357674A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19357674A>G , CM000685.2:g.19357674A>G	GRCh38
NC_000023.10:g.19375792A>G , CM000685.1:g.19375792A>G	GRCh37
NC_000023.9:g.19285713A>G	NCBI36
NG_016781.1:g.18782A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.875A>G	ENSP00000348062.6:p.Gln292Arg
ENST00000379805.4:c.*546A>G	ENSP00000369133.3:n.*546A>G
ENST00000417819.6:c.938A>G	ENSP00000404616.2:p.Gln313Arg
ENST00000423505.6:c.968A>G	ENSP00000406473.2:p.Gln323Arg
ENST00000481733.2:n.649A>G
ENST00000696704.1:c.*186A>G	ENSP00000512823.1:n.*186A>G
ENST00000696705.1:c.*309A>G	ENSP00000512824.1:n.*309A>G
ENST00000422285.7:c.854A>G MANE Select	ENSP00000394382.2:p.Gln285Arg
ENST00000379804.1:c.11A>G	ENSP00000369132.1:p.Gln4Arg
ENST00000379806.9:c.968A>G	ENSP00000369134.5:p.Gln323Arg
ENST00000422285.6:c.854A>G	ENSP00000394382.2:p.Gln285Arg
ENST00000478795.1:n.293A>G
ENST00000481733.1:n.282A>G
ENST00000540249.5:c.761A>G	ENSP00000440761.1:p.Gln254Arg
ENST00000545074.5:c.875A>G	ENSP00000438550.1:p.Gln292Arg
NM_000284.3:c.854A>G	NP_000275.1:p.Gln285Arg
NM_001173454.1:c.968A>G	NP_001166925.1:p.Gln323Arg
NM_001173455.1:c.875A>G	NP_001166926.1:p.Gln292Arg
NM_001173456.1:c.761A>G	NP_001166927.1:p.Gln254Arg
XM_011545531.1:c.989A>G	XP_011543833.1:p.Gln330Arg
XM_011545532.1:c.896A>G	XP_011543834.1:p.Gln299Arg
XM_017029574.2:c.875A>G	XP_016885063.1:p.Gln292Arg
NM_000284.4:c.854A>G MANE Select	NP_000275.1:p.Gln285Arg
NM_001173454.2:c.968A>G	NP_001166925.1:p.Gln323Arg
NM_001173455.2:c.875A>G	NP_001166926.1:p.Gln292Arg
NM_001173456.2:c.761A>G	NP_001166927.1:p.Gln254Arg