Canonical Allele Identifier: CA2418225591

Gene: PDHA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359564G= , CM000685.2:g.19359564G=	GRCh38
NC_000023.10:g.19377682G= , CM000685.1:g.19377682G=	GRCh37
NC_000023.9:g.19287603G=	NCBI36
NG_016781.1:g.20672G=
NG_021184.1:g.160698C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.1105G=	ENSP00000348062.6:p.Glu369=
ENST00000379805.4:c.*776G=	ENSP00000369133.3:n.*776G=
ENST00000417819.6:c.1168G=	ENSP00000404616.2:p.Glu390=
ENST00000423505.6:c.1198G=	ENSP00000406473.2:p.Glu400=
ENST00000481733.2:n.879G=
ENST00000696704.1:c.*416G=	ENSP00000512823.1:n.*416G=
ENST00000696705.1:c.*539G=	ENSP00000512824.1:n.*539G=
ENST00000422285.7:c.1084G= MANE Select	ENSP00000394382.2:p.Glu362=
ENST00000379804.1:c.241G=	ENSP00000369132.1:p.Glu81=
ENST00000379806.9:c.1198G=	ENSP00000369134.5:p.Glu400=
ENST00000422285.6:c.1084G=	ENSP00000394382.2:p.Glu362=
ENST00000478795.1:n.523G=
ENST00000540249.5:c.991G=	ENSP00000440761.1:p.Glu331=
ENST00000545074.5:c.1105G=	ENSP00000438550.1:p.Glu369=
NM_000284.3:c.1084G=	NP_000275.1:p.Glu362=
NM_001173454.1:c.1198G=	NP_001166925.1:p.Glu400=
NM_001173455.1:c.1105G=	NP_001166926.1:p.Glu369=
NM_001173456.1:c.991G=	NP_001166927.1:p.Glu331=
XM_011545531.1:c.1219G=	XP_011543833.1:p.Glu407=
XM_011545532.1:c.1126G=	XP_011543834.1:p.Glu376=
XM_017029574.2:c.1105G=	XP_016885063.1:p.Glu369=
NM_000284.4:c.1084G= MANE Select	NP_000275.1:p.Glu362=
NM_001173454.2:c.1198G=	NP_001166925.1:p.Glu400=
NM_001173455.2:c.1105G=	NP_001166926.1:p.Glu369=
NM_001173456.2:c.991G=	NP_001166927.1:p.Glu331=