Canonical Allele Identifier: CA2418225631

Gene: PDHA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359652A= , CM000685.2:g.19359652A=	GRCh38
NC_000023.10:g.19377770A= , CM000685.1:g.19377770A=	GRCh37
NC_000023.9:g.19287691A=	NCBI36
NG_016781.1:g.20760A=
NG_021184.1:g.160610T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.1193A=	ENSP00000348062.6:p.Ter398=
ENST00000379805.4:c.*864A=	ENSP00000369133.3:n.*864A=
ENST00000417819.6:c.1256A=	ENSP00000404616.2:p.Ter419=
ENST00000423505.6:c.1286A=	ENSP00000406473.2:p.Ter429=
ENST00000481733.2:n.967A=
ENST00000696704.1:c.*504A=	ENSP00000512823.1:n.*504A=
ENST00000696705.1:c.*627A=	ENSP00000512824.1:n.*627A=
ENST00000422285.7:c.1172A= MANE Select	ENSP00000394382.2:p.Ter391=
ENST00000379804.1:c.329A=	ENSP00000369132.1:p.Ter110=
ENST00000379806.9:c.1286A=	ENSP00000369134.5:p.Ter429=
ENST00000422285.6:c.1172A=	ENSP00000394382.2:p.Ter391=
ENST00000478795.1:n.611A=
ENST00000540249.5:c.1079A=	ENSP00000440761.1:p.Ter360=
ENST00000545074.5:c.1193A=	ENSP00000438550.1:p.Ter398=
NM_000284.3:c.1172A=	NP_000275.1:p.Ter391=
NM_001173454.1:c.1286A=	NP_001166925.1:p.Ter429=
NM_001173455.1:c.1193A=	NP_001166926.1:p.Ter398=
NM_001173456.1:c.1079A=	NP_001166927.1:p.Ter360=
XM_011545531.1:c.1307A=	XP_011543833.1:p.Ter436=
XM_011545532.1:c.1214A=	XP_011543834.1:p.Ter405=
XM_017029574.2:c.1193A=	XP_016885063.1:p.Ter398=
NM_000284.4:c.1172A= MANE Select	NP_000275.1:p.Ter391=
NM_001173454.2:c.1286A=	NP_001166925.1:p.Ter429=
NM_001173455.2:c.1193A=	NP_001166926.1:p.Ter398=
NM_001173456.2:c.1079A=	NP_001166927.1:p.Ter360=