Canonical Allele Identifier: CA2418225232

Gene: PDHA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19358949A= , CM000685.2:g.19358949A=	GRCh38
NC_000023.10:g.19377067A= , CM000685.1:g.19377067A=	GRCh37
NC_000023.9:g.19286988A=	NCBI36
NG_016781.1:g.20057A=
NG_021184.1:g.161313T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.954A=	ENSP00000348062.6:p.Arg318=
ENST00000379805.4:c.*625A=	ENSP00000369133.3:n.*625A=
ENST00000417819.6:c.1017A=	ENSP00000404616.2:p.Arg339=
ENST00000423505.6:c.1047A=	ENSP00000406473.2:p.Arg349=
ENST00000481733.2:n.728A=
ENST00000696704.1:c.*265A=	ENSP00000512823.1:n.*265A=
ENST00000696705.1:c.*388A=	ENSP00000512824.1:n.*388A=
ENST00000422285.7:c.933A= MANE Select	ENSP00000394382.2:p.Arg311=
ENST00000379804.1:c.90A=	ENSP00000369132.1:p.Arg30=
ENST00000379806.9:c.1047A=	ENSP00000369134.5:p.Arg349=
ENST00000422285.6:c.933A=	ENSP00000394382.2:p.Arg311=
ENST00000478795.1:n.372A=
ENST00000481733.1:n.361A=
ENST00000540249.5:c.840A=	ENSP00000440761.1:p.Arg280=
ENST00000545074.5:c.954A=	ENSP00000438550.1:p.Arg318=
NM_000284.3:c.933A=	NP_000275.1:p.Arg311=
NM_001173454.1:c.1047A=	NP_001166925.1:p.Arg349=
NM_001173455.1:c.954A=	NP_001166926.1:p.Arg318=
NM_001173456.1:c.840A=	NP_001166927.1:p.Arg280=
XM_011545531.1:c.1068A=	XP_011543833.1:p.Arg356=
XM_011545532.1:c.975A=	XP_011543834.1:p.Arg325=
XM_017029574.2:c.954A=	XP_016885063.1:p.Arg318=
NM_000284.4:c.933A= MANE Select	NP_000275.1:p.Arg311=
NM_001173454.2:c.1047A=	NP_001166925.1:p.Arg349=
NM_001173455.2:c.954A=	NP_001166926.1:p.Arg318=
NM_001173456.2:c.840A=	NP_001166927.1:p.Arg280=