Canonical Allele Identifier: CA2418225236

Gene: PDHA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19358959G= , CM000685.2:g.19358959G=	GRCh38
NC_000023.10:g.19377077G= , CM000685.1:g.19377077G=	GRCh37
NC_000023.9:g.19286998G=	NCBI36
NG_016781.1:g.20067G=
NG_021184.1:g.161303C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.964G=	ENSP00000348062.6:p.Asp322=
ENST00000379805.4:c.*635G=	ENSP00000369133.3:n.*635G=
ENST00000417819.6:c.1027G=	ENSP00000404616.2:p.Asp343=
ENST00000423505.6:c.1057G=	ENSP00000406473.2:p.Asp353=
ENST00000481733.2:n.738G=
ENST00000696704.1:c.*275G=	ENSP00000512823.1:n.*275G=
ENST00000696705.1:c.*398G=	ENSP00000512824.1:n.*398G=
ENST00000422285.7:c.943G= MANE Select	ENSP00000394382.2:p.Asp315=
ENST00000379804.1:c.100G=	ENSP00000369132.1:p.Asp34=
ENST00000379806.9:c.1057G=	ENSP00000369134.5:p.Asp353=
ENST00000422285.6:c.943G=	ENSP00000394382.2:p.Asp315=
ENST00000478795.1:n.382G=
ENST00000481733.1:n.371G=
ENST00000540249.5:c.850G=	ENSP00000440761.1:p.Asp284=
ENST00000545074.5:c.964G=	ENSP00000438550.1:p.Asp322=
NM_000284.3:c.943G=	NP_000275.1:p.Asp315=
NM_001173454.1:c.1057G=	NP_001166925.1:p.Asp353=
NM_001173455.1:c.964G=	NP_001166926.1:p.Asp322=
NM_001173456.1:c.850G=	NP_001166927.1:p.Asp284=
XM_011545531.1:c.1078G=	XP_011543833.1:p.Asp360=
XM_011545532.1:c.985G=	XP_011543834.1:p.Asp329=
XM_017029574.2:c.964G=	XP_016885063.1:p.Asp322=
NM_000284.4:c.943G= MANE Select	NP_000275.1:p.Asp315=
NM_001173454.2:c.1057G=	NP_001166925.1:p.Asp353=
NM_001173455.2:c.964G=	NP_001166926.1:p.Asp322=
NM_001173456.2:c.850G=	NP_001166927.1:p.Asp284=