Canonical Allele Identifier: CA2418225218

Gene: PDHA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19358920C= , CM000685.2:g.19358920C=	GRCh38
NC_000023.10:g.19377038C= , CM000685.1:g.19377038C=	GRCh37
NC_000023.9:g.19286959C=	NCBI36
NG_016781.1:g.20028C=
NG_021184.1:g.161342G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.925C=	ENSP00000348062.6:p.Arg309=
ENST00000379805.4:c.*596C=	ENSP00000369133.3:n.*596C=
ENST00000417819.6:c.988C=	ENSP00000404616.2:p.Arg330=
ENST00000423505.6:c.1018C=	ENSP00000406473.2:p.Arg340=
ENST00000481733.2:n.699C=
ENST00000696704.1:c.*236C=	ENSP00000512823.1:n.*236C=
ENST00000696705.1:c.*359C=	ENSP00000512824.1:n.*359C=
ENST00000422285.7:c.904C= MANE Select	ENSP00000394382.2:p.Arg302=
ENST00000379804.1:c.61C=	ENSP00000369132.1:p.Arg21=
ENST00000379806.9:c.1018C=	ENSP00000369134.5:p.Arg340=
ENST00000422285.6:c.904C=	ENSP00000394382.2:p.Arg302=
ENST00000478795.1:n.343C=
ENST00000481733.1:n.332C=
ENST00000540249.5:c.811C=	ENSP00000440761.1:p.Arg271=
ENST00000545074.5:c.925C=	ENSP00000438550.1:p.Arg309=
NM_000284.3:c.904C=	NP_000275.1:p.Arg302=
NM_001173454.1:c.1018C=	NP_001166925.1:p.Arg340=
NM_001173455.1:c.925C=	NP_001166926.1:p.Arg309=
NM_001173456.1:c.811C=	NP_001166927.1:p.Arg271=
XM_011545531.1:c.1039C=	XP_011543833.1:p.Arg347=
XM_011545532.1:c.946C=	XP_011543834.1:p.Arg316=
XM_017029574.2:c.925C=	XP_016885063.1:p.Arg309=
NM_000284.4:c.904C= MANE Select	NP_000275.1:p.Arg302=
NM_001173454.2:c.1018C=	NP_001166925.1:p.Arg340=
NM_001173455.2:c.925C=	NP_001166926.1:p.Arg309=
NM_001173456.2:c.811C=	NP_001166927.1:p.Arg271=