Canonical Allele Identifier: CA2418224610

Gene: PDHA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19357669G= , CM000685.2:g.19357669G=	GRCh38
NC_000023.10:g.19375787G= , CM000685.1:g.19375787G=	GRCh37
NC_000023.9:g.19285708G=	NCBI36
NG_016781.1:g.18777G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.870G=	ENSP00000348062.6:p.Glu290=
ENST00000379805.4:c.*541G=	ENSP00000369133.3:n.*541G=
ENST00000417819.6:c.933G=	ENSP00000404616.2:p.Glu311=
ENST00000423505.6:c.963G=	ENSP00000406473.2:p.Glu321=
ENST00000481733.2:n.644G=
ENST00000696704.1:c.*181G=	ENSP00000512823.1:n.*181G=
ENST00000696705.1:c.*304G=	ENSP00000512824.1:n.*304G=
ENST00000422285.7:c.849G= MANE Select	ENSP00000394382.2:p.Glu283=
ENST00000379804.1:c.6G=	ENSP00000369132.1:p.Glu2=
ENST00000379806.9:c.963G=	ENSP00000369134.5:p.Glu321=
ENST00000422285.6:c.849G=	ENSP00000394382.2:p.Glu283=
ENST00000478795.1:n.288G=
ENST00000481733.1:n.277G=
ENST00000540249.5:c.756G=	ENSP00000440761.1:p.Glu252=
ENST00000545074.5:c.870G=	ENSP00000438550.1:p.Glu290=
NM_000284.3:c.849G=	NP_000275.1:p.Glu283=
NM_001173454.1:c.963G=	NP_001166925.1:p.Glu321=
NM_001173455.1:c.870G=	NP_001166926.1:p.Glu290=
NM_001173456.1:c.756G=	NP_001166927.1:p.Glu252=
XM_011545531.1:c.984G=	XP_011543833.1:p.Glu328=
XM_011545532.1:c.891G=	XP_011543834.1:p.Glu297=
XM_017029574.2:c.870G=	XP_016885063.1:p.Glu290=
NM_000284.4:c.849G= MANE Select	NP_000275.1:p.Glu283=
NM_001173454.2:c.963G=	NP_001166925.1:p.Glu321=
NM_001173455.2:c.870G=	NP_001166926.1:p.Glu290=
NM_001173456.2:c.756G=	NP_001166927.1:p.Glu252=