Canonical Allele Identifier: CA412394568

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19373563G>A (hg19) ; chrX:g.19355445G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355445G>A , CM000685.2:g.19355445G>A	GRCh38
NC_000023.10:g.19373563G>A , CM000685.1:g.19373563G>A	GRCh37
NC_000023.9:g.19283484G>A	NCBI36
NG_016781.1:g.16553G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.721G>A	ENSP00000348062.6:p.Glu241Lys
ENST00000379805.4:c.*392G>A	ENSP00000369133.3:n.*392G>A
ENST00000417819.6:c.784G>A	ENSP00000404616.2:p.Glu262Lys
ENST00000423505.6:c.814G>A	ENSP00000406473.2:p.Glu272Lys
ENST00000481733.2:n.495G>A
ENST00000696704.1:c.*32G>A	ENSP00000512823.1:n.*32G>A
ENST00000696705.1:c.*155G>A	ENSP00000512824.1:n.*155G>A
ENST00000422285.7:c.700G>A MANE Select	ENSP00000394382.2:p.Glu234Lys
ENST00000379806.9:c.814G>A	ENSP00000369134.5:p.Glu272Lys
ENST00000422285.6:c.700G>A	ENSP00000394382.2:p.Glu234Lys
ENST00000479146.1:n.535G>A
ENST00000481733.1:n.128G>A
ENST00000540249.5:c.607G>A	ENSP00000440761.1:p.Glu203Lys
ENST00000545074.5:c.721G>A	ENSP00000438550.1:p.Glu241Lys
NM_000284.3:c.700G>A	NP_000275.1:p.Glu234Lys
NM_001173454.1:c.814G>A	NP_001166925.1:p.Glu272Lys
NM_001173455.1:c.721G>A	NP_001166926.1:p.Glu241Lys
NM_001173456.1:c.607G>A	NP_001166927.1:p.Glu203Lys
XM_011545531.1:c.835G>A	XP_011543833.1:p.Glu279Lys
XM_011545532.1:c.742G>A	XP_011543834.1:p.Glu248Lys
XM_017029574.2:c.721G>A	XP_016885063.1:p.Glu241Lys
NM_000284.4:c.700G>A MANE Select	NP_000275.1:p.Glu234Lys
NM_001173454.2:c.814G>A	NP_001166925.1:p.Glu272Lys
NM_001173455.2:c.721G>A	NP_001166926.1:p.Glu241Lys
NM_001173456.2:c.607G>A	NP_001166927.1:p.Glu203Lys