Canonical Allele Identifier: CA412395165

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19375785G>A (hg19) ; chrX:g.19357667G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19357667G>A , CM000685.2:g.19357667G>A	GRCh38
NC_000023.10:g.19375785G>A , CM000685.1:g.19375785G>A	GRCh37
NC_000023.9:g.19285706G>A	NCBI36
NG_016781.1:g.18775G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.868G>A	ENSP00000348062.6:p.Glu290Lys
ENST00000379805.4:c.*539G>A	ENSP00000369133.3:n.*539G>A
ENST00000417819.6:c.931G>A	ENSP00000404616.2:p.Glu311Lys
ENST00000423505.6:c.961G>A	ENSP00000406473.2:p.Glu321Lys
ENST00000481733.2:n.642G>A
ENST00000696704.1:c.*179G>A	ENSP00000512823.1:n.*179G>A
ENST00000696705.1:c.*302G>A	ENSP00000512824.1:n.*302G>A
ENST00000422285.7:c.847G>A MANE Select	ENSP00000394382.2:p.Glu283Lys
ENST00000379804.1:c.4G>A	ENSP00000369132.1:p.Glu2Lys
ENST00000379806.9:c.961G>A	ENSP00000369134.5:p.Glu321Lys
ENST00000422285.6:c.847G>A	ENSP00000394382.2:p.Glu283Lys
ENST00000478795.1:n.286G>A
ENST00000481733.1:n.275G>A
ENST00000540249.5:c.754G>A	ENSP00000440761.1:p.Glu252Lys
ENST00000545074.5:c.868G>A	ENSP00000438550.1:p.Glu290Lys
NM_000284.3:c.847G>A	NP_000275.1:p.Glu283Lys
NM_001173454.1:c.961G>A	NP_001166925.1:p.Glu321Lys
NM_001173455.1:c.868G>A	NP_001166926.1:p.Glu290Lys
NM_001173456.1:c.754G>A	NP_001166927.1:p.Glu252Lys
XM_011545531.1:c.982G>A	XP_011543833.1:p.Glu328Lys
XM_011545532.1:c.889G>A	XP_011543834.1:p.Glu297Lys
XM_017029574.2:c.868G>A	XP_016885063.1:p.Glu290Lys
NM_000284.4:c.847G>A MANE Select	NP_000275.1:p.Glu283Lys
NM_001173454.2:c.961G>A	NP_001166925.1:p.Glu321Lys
NM_001173455.2:c.868G>A	NP_001166926.1:p.Glu290Lys
NM_001173456.2:c.754G>A	NP_001166927.1:p.Glu252Lys