Canonical Allele Identifier: CA2418225221

Gene: PDHA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19358926C= , CM000685.2:g.19358926C=	GRCh38
NC_000023.10:g.19377044C= , CM000685.1:g.19377044C=	GRCh37
NC_000023.9:g.19286965C=	NCBI36
NG_016781.1:g.20034C=
NG_021184.1:g.161336G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.931C=	ENSP00000348062.6:p.Arg311=
ENST00000379805.4:c.*602C=	ENSP00000369133.3:n.*602C=
ENST00000417819.6:c.994C=	ENSP00000404616.2:p.Arg332=
ENST00000423505.6:c.1024C=	ENSP00000406473.2:p.Arg342=
ENST00000481733.2:n.705C=
ENST00000696704.1:c.*242C=	ENSP00000512823.1:n.*242C=
ENST00000696705.1:c.*365C=	ENSP00000512824.1:n.*365C=
ENST00000422285.7:c.910C= MANE Select	ENSP00000394382.2:p.Arg304=
ENST00000379804.1:c.67C=	ENSP00000369132.1:p.Arg23=
ENST00000379806.9:c.1024C=	ENSP00000369134.5:p.Arg342=
ENST00000422285.6:c.910C=	ENSP00000394382.2:p.Arg304=
ENST00000478795.1:n.349C=
ENST00000481733.1:n.338C=
ENST00000540249.5:c.817C=	ENSP00000440761.1:p.Arg273=
ENST00000545074.5:c.931C=	ENSP00000438550.1:p.Arg311=
NM_000284.3:c.910C=	NP_000275.1:p.Arg304=
NM_001173454.1:c.1024C=	NP_001166925.1:p.Arg342=
NM_001173455.1:c.931C=	NP_001166926.1:p.Arg311=
NM_001173456.1:c.817C=	NP_001166927.1:p.Arg273=
XM_011545531.1:c.1045C=	XP_011543833.1:p.Arg349=
XM_011545532.1:c.952C=	XP_011543834.1:p.Arg318=
XM_017029574.2:c.931C=	XP_016885063.1:p.Arg311=
NM_000284.4:c.910C= MANE Select	NP_000275.1:p.Arg304=
NM_001173454.2:c.1024C=	NP_001166925.1:p.Arg342=
NM_001173455.2:c.931C=	NP_001166926.1:p.Arg311=
NM_001173456.2:c.817C=	NP_001166927.1:p.Arg273=