Canonical Allele Identifier: CA2418224607

Gene: PDHA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19357657C= , CM000685.2:g.19357657C=	GRCh38
NC_000023.10:g.19375775C= , CM000685.1:g.19375775C=	GRCh37
NC_000023.9:g.19285696C=	NCBI36
NG_016781.1:g.18765C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.858C=	ENSP00000348062.6:p.Pro286=
ENST00000379805.4:c.*529C=	ENSP00000369133.3:n.*529C=
ENST00000417819.6:c.921C=	ENSP00000404616.2:p.Pro307=
ENST00000423505.6:c.951C=	ENSP00000406473.2:p.Pro317=
ENST00000481733.2:n.632C=
ENST00000696704.1:c.*169C=	ENSP00000512823.1:n.*169C=
ENST00000696705.1:c.*292C=	ENSP00000512824.1:n.*292C=
ENST00000422285.7:c.837C= MANE Select	ENSP00000394382.2:p.Pro279=
ENST00000379804.1:c.-7C=	ENSP00000369132.1:n.-7C=
ENST00000379806.9:c.951C=	ENSP00000369134.5:p.Pro317=
ENST00000422285.6:c.837C=	ENSP00000394382.2:p.Pro279=
ENST00000478795.1:n.276C=
ENST00000481733.1:n.265C=
ENST00000540249.5:c.744C=	ENSP00000440761.1:p.Pro248=
ENST00000545074.5:c.858C=	ENSP00000438550.1:p.Pro286=
NM_000284.3:c.837C=	NP_000275.1:p.Pro279=
NM_001173454.1:c.951C=	NP_001166925.1:p.Pro317=
NM_001173455.1:c.858C=	NP_001166926.1:p.Pro286=
NM_001173456.1:c.744C=	NP_001166927.1:p.Pro248=
XM_011545531.1:c.972C=	XP_011543833.1:p.Pro324=
XM_011545532.1:c.879C=	XP_011543834.1:p.Pro293=
XM_017029574.2:c.858C=	XP_016885063.1:p.Pro286=
NM_000284.4:c.837C= MANE Select	NP_000275.1:p.Pro279=
NM_001173454.2:c.951C=	NP_001166925.1:p.Pro317=
NM_001173455.2:c.858C=	NP_001166926.1:p.Pro286=
NM_001173456.2:c.744C=	NP_001166927.1:p.Pro248=