Canonical Allele Identifier: CA2418224615

Gene: PDHA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19357682C= , CM000685.2:g.19357682C=	GRCh38
NC_000023.10:g.19375800C= , CM000685.1:g.19375800C=	GRCh37
NC_000023.9:g.19285721C=	NCBI36
NG_016781.1:g.18790C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.883C=	ENSP00000348062.6:p.Arg295=
ENST00000379805.4:c.*554C=	ENSP00000369133.3:n.*554C=
ENST00000417819.6:c.946C=	ENSP00000404616.2:p.Arg316=
ENST00000423505.6:c.976C=	ENSP00000406473.2:p.Arg326=
ENST00000481733.2:n.657C=
ENST00000696704.1:c.*194C=	ENSP00000512823.1:n.*194C=
ENST00000696705.1:c.*317C=	ENSP00000512824.1:n.*317C=
ENST00000422285.7:c.862C= MANE Select	ENSP00000394382.2:p.Arg288=
ENST00000379804.1:c.19C=	ENSP00000369132.1:p.Arg7=
ENST00000379806.9:c.976C=	ENSP00000369134.5:p.Arg326=
ENST00000422285.6:c.862C=	ENSP00000394382.2:p.Arg288=
ENST00000478795.1:n.301C=
ENST00000481733.1:n.290C=
ENST00000540249.5:c.769C=	ENSP00000440761.1:p.Arg257=
ENST00000545074.5:c.883C=	ENSP00000438550.1:p.Arg295=
NM_000284.3:c.862C=	NP_000275.1:p.Arg288=
NM_001173454.1:c.976C=	NP_001166925.1:p.Arg326=
NM_001173455.1:c.883C=	NP_001166926.1:p.Arg295=
NM_001173456.1:c.769C=	NP_001166927.1:p.Arg257=
XM_011545531.1:c.997C=	XP_011543833.1:p.Arg333=
XM_011545532.1:c.904C=	XP_011543834.1:p.Arg302=
XM_017029574.2:c.883C=	XP_016885063.1:p.Arg295=
NM_000284.4:c.862C= MANE Select	NP_000275.1:p.Arg288=
NM_001173454.2:c.976C=	NP_001166925.1:p.Arg326=
NM_001173455.2:c.883C=	NP_001166926.1:p.Arg295=
NM_001173456.2:c.769C=	NP_001166927.1:p.Arg257=