Canonical Allele Identifier: CA2418224622

Gene: PDHA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19357714A= , CM000685.2:g.19357714A=	GRCh38
NC_000023.10:g.19375832A= , CM000685.1:g.19375832A=	GRCh37
NC_000023.9:g.19285753A=	NCBI36
NG_016781.1:g.18822A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.915A=	ENSP00000348062.6:p.Gly305=
ENST00000379805.4:c.*586A=	ENSP00000369133.3:n.*586A=
ENST00000417819.6:c.978A=	ENSP00000404616.2:p.Gly326=
ENST00000423505.6:c.1008A=	ENSP00000406473.2:p.Gly336=
ENST00000481733.2:n.689A=
ENST00000696704.1:c.*226A=	ENSP00000512823.1:n.*226A=
ENST00000696705.1:c.*349A=	ENSP00000512824.1:n.*349A=
ENST00000422285.7:c.894A= MANE Select	ENSP00000394382.2:p.Gly298=
ENST00000379804.1:c.51A=	ENSP00000369132.1:p.Gly17=
ENST00000379806.9:c.1008A=	ENSP00000369134.5:p.Gly336=
ENST00000422285.6:c.894A=	ENSP00000394382.2:p.Gly298=
ENST00000478795.1:n.333A=
ENST00000481733.1:n.322A=
ENST00000540249.5:c.801A=	ENSP00000440761.1:p.Gly267=
ENST00000545074.5:c.915A=	ENSP00000438550.1:p.Gly305=
NM_000284.3:c.894A=	NP_000275.1:p.Gly298=
NM_001173454.1:c.1008A=	NP_001166925.1:p.Gly336=
NM_001173455.1:c.915A=	NP_001166926.1:p.Gly305=
NM_001173456.1:c.801A=	NP_001166927.1:p.Gly267=
XM_011545531.1:c.1029A=	XP_011543833.1:p.Gly343=
XM_011545532.1:c.936A=	XP_011543834.1:p.Gly312=
XM_017029574.2:c.915A=	XP_016885063.1:p.Gly305=
NM_000284.4:c.894A= MANE Select	NP_000275.1:p.Gly298=
NM_001173454.2:c.1008A=	NP_001166925.1:p.Gly336=
NM_001173455.2:c.915A=	NP_001166926.1:p.Gly305=
NM_001173456.2:c.801A=	NP_001166927.1:p.Gly267=