Canonical Allele Identifier: CA2418225588

Gene: PDHA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359553A= , CM000685.2:g.19359553A=	GRCh38
NC_000023.10:g.19377671A= , CM000685.1:g.19377671A=	GRCh37
NC_000023.9:g.19287592A=	NCBI36
NG_016781.1:g.20661A=
NG_021184.1:g.160709T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.1094A=	ENSP00000348062.6:p.Glu365=
ENST00000379805.4:c.*765A=	ENSP00000369133.3:n.*765A=
ENST00000417819.6:c.1157A=	ENSP00000404616.2:p.Glu386=
ENST00000423505.6:c.1187A=	ENSP00000406473.2:p.Glu396=
ENST00000481733.2:n.868A=
ENST00000696704.1:c.*405A=	ENSP00000512823.1:n.*405A=
ENST00000696705.1:c.*528A=	ENSP00000512824.1:n.*528A=
ENST00000422285.7:c.1073A= MANE Select	ENSP00000394382.2:p.Glu358=
ENST00000379804.1:c.230A=	ENSP00000369132.1:p.Glu77=
ENST00000379806.9:c.1187A=	ENSP00000369134.5:p.Glu396=
ENST00000422285.6:c.1073A=	ENSP00000394382.2:p.Glu358=
ENST00000478795.1:n.512A=
ENST00000540249.5:c.980A=	ENSP00000440761.1:p.Glu327=
ENST00000545074.5:c.1094A=	ENSP00000438550.1:p.Glu365=
NM_000284.3:c.1073A=	NP_000275.1:p.Glu358=
NM_001173454.1:c.1187A=	NP_001166925.1:p.Glu396=
NM_001173455.1:c.1094A=	NP_001166926.1:p.Glu365=
NM_001173456.1:c.980A=	NP_001166927.1:p.Glu327=
XM_011545531.1:c.1208A=	XP_011543833.1:p.Glu403=
XM_011545532.1:c.1115A=	XP_011543834.1:p.Glu372=
XM_017029574.2:c.1094A=	XP_016885063.1:p.Glu365=
NM_000284.4:c.1073A= MANE Select	NP_000275.1:p.Glu358=
NM_001173454.2:c.1187A=	NP_001166925.1:p.Glu396=
NM_001173455.2:c.1094A=	NP_001166926.1:p.Glu365=
NM_001173456.2:c.980A=	NP_001166927.1:p.Glu327=