Canonical Allele Identifier: CA2418224611

Gene: PDHA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19357672G= , CM000685.2:g.19357672G=	GRCh38
NC_000023.10:g.19375790G= , CM000685.1:g.19375790G=	GRCh37
NC_000023.9:g.19285711G=	NCBI36
NG_016781.1:g.18780G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.873G=	ENSP00000348062.6:p.Leu291=
ENST00000379805.4:c.*544G=	ENSP00000369133.3:n.*544G=
ENST00000417819.6:c.936G=	ENSP00000404616.2:p.Leu312=
ENST00000423505.6:c.966G=	ENSP00000406473.2:p.Leu322=
ENST00000481733.2:n.647G=
ENST00000696704.1:c.*184G=	ENSP00000512823.1:n.*184G=
ENST00000696705.1:c.*307G=	ENSP00000512824.1:n.*307G=
ENST00000422285.7:c.852G= MANE Select	ENSP00000394382.2:p.Leu284=
ENST00000379804.1:c.9G=	ENSP00000369132.1:p.Leu3=
ENST00000379806.9:c.966G=	ENSP00000369134.5:p.Leu322=
ENST00000422285.6:c.852G=	ENSP00000394382.2:p.Leu284=
ENST00000478795.1:n.291G=
ENST00000481733.1:n.280G=
ENST00000540249.5:c.759G=	ENSP00000440761.1:p.Leu253=
ENST00000545074.5:c.873G=	ENSP00000438550.1:p.Leu291=
NM_000284.3:c.852G=	NP_000275.1:p.Leu284=
NM_001173454.1:c.966G=	NP_001166925.1:p.Leu322=
NM_001173455.1:c.873G=	NP_001166926.1:p.Leu291=
NM_001173456.1:c.759G=	NP_001166927.1:p.Leu253=
XM_011545531.1:c.987G=	XP_011543833.1:p.Leu329=
XM_011545532.1:c.894G=	XP_011543834.1:p.Leu298=
XM_017029574.2:c.873G=	XP_016885063.1:p.Leu291=
NM_000284.4:c.852G= MANE Select	NP_000275.1:p.Leu284=
NM_001173454.2:c.966G=	NP_001166925.1:p.Leu322=
NM_001173455.2:c.873G=	NP_001166926.1:p.Leu291=
NM_001173456.2:c.759G=	NP_001166927.1:p.Leu253=