Canonical Allele Identifier: CA2418225571

Gene: PDHA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359515G= , CM000685.2:g.19359515G=	GRCh38
NC_000023.10:g.19377633G= , CM000685.1:g.19377633G=	GRCh37
NC_000023.9:g.19287554G=	NCBI36
NG_016781.1:g.20623G=
NG_021184.1:g.160747C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.1056G=	ENSP00000348062.6:p.Glu352=
ENST00000379805.4:c.*727G=	ENSP00000369133.3:n.*727G=
ENST00000417819.6:c.1119G=	ENSP00000404616.2:p.Glu373=
ENST00000423505.6:c.1149G=	ENSP00000406473.2:p.Glu383=
ENST00000481733.2:n.830G=
ENST00000696704.1:c.*367G=	ENSP00000512823.1:n.*367G=
ENST00000696705.1:c.*490G=	ENSP00000512824.1:n.*490G=
ENST00000422285.7:c.1035G= MANE Select	ENSP00000394382.2:p.Glu345=
ENST00000379804.1:c.192G=	ENSP00000369132.1:p.Glu64=
ENST00000379806.9:c.1149G=	ENSP00000369134.5:p.Glu383=
ENST00000422285.6:c.1035G=	ENSP00000394382.2:p.Glu345=
ENST00000478795.1:n.474G=
ENST00000540249.5:c.942G=	ENSP00000440761.1:p.Glu314=
ENST00000545074.5:c.1056G=	ENSP00000438550.1:p.Glu352=
NM_000284.3:c.1035G=	NP_000275.1:p.Glu345=
NM_001173454.1:c.1149G=	NP_001166925.1:p.Glu383=
NM_001173455.1:c.1056G=	NP_001166926.1:p.Glu352=
NM_001173456.1:c.942G=	NP_001166927.1:p.Glu314=
XM_011545531.1:c.1170G=	XP_011543833.1:p.Glu390=
XM_011545532.1:c.1077G=	XP_011543834.1:p.Glu359=
XM_017029574.2:c.1056G=	XP_016885063.1:p.Glu352=
NM_000284.4:c.1035G= MANE Select	NP_000275.1:p.Glu345=
NM_001173454.2:c.1149G=	NP_001166925.1:p.Glu383=
NM_001173455.2:c.1056G=	NP_001166926.1:p.Glu352=
NM_001173456.2:c.942G=	NP_001166927.1:p.Glu314=