Canonical Allele Identifier: CA2418225235

Gene: PDHA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19358957G= , CM000685.2:g.19358957G=	GRCh38
NC_000023.10:g.19377075G= , CM000685.1:g.19377075G=	GRCh37
NC_000023.9:g.19286996G=	NCBI36
NG_016781.1:g.20065G=
NG_021184.1:g.161305C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.962G=	ENSP00000348062.6:p.Ser321=
ENST00000379805.4:c.*633G=	ENSP00000369133.3:n.*633G=
ENST00000417819.6:c.1025G=	ENSP00000404616.2:p.Ser342=
ENST00000423505.6:c.1055G=	ENSP00000406473.2:p.Ser352=
ENST00000481733.2:n.736G=
ENST00000696704.1:c.*273G=	ENSP00000512823.1:n.*273G=
ENST00000696705.1:c.*396G=	ENSP00000512824.1:n.*396G=
ENST00000422285.7:c.941G= MANE Select	ENSP00000394382.2:p.Ser314=
ENST00000379804.1:c.98G=	ENSP00000369132.1:p.Ser33=
ENST00000379806.9:c.1055G=	ENSP00000369134.5:p.Ser352=
ENST00000422285.6:c.941G=	ENSP00000394382.2:p.Ser314=
ENST00000478795.1:n.380G=
ENST00000481733.1:n.369G=
ENST00000540249.5:c.848G=	ENSP00000440761.1:p.Ser283=
ENST00000545074.5:c.962G=	ENSP00000438550.1:p.Ser321=
NM_000284.3:c.941G=	NP_000275.1:p.Ser314=
NM_001173454.1:c.1055G=	NP_001166925.1:p.Ser352=
NM_001173455.1:c.962G=	NP_001166926.1:p.Ser321=
NM_001173456.1:c.848G=	NP_001166927.1:p.Ser283=
XM_011545531.1:c.1076G=	XP_011543833.1:p.Ser359=
XM_011545532.1:c.983G=	XP_011543834.1:p.Ser328=
XM_017029574.2:c.962G=	XP_016885063.1:p.Ser321=
NM_000284.4:c.941G= MANE Select	NP_000275.1:p.Ser314=
NM_001173454.2:c.1055G=	NP_001166925.1:p.Ser352=
NM_001173455.2:c.962G=	NP_001166926.1:p.Ser321=
NM_001173456.2:c.848G=	NP_001166927.1:p.Ser283=