Canonical Allele Identifier: CA2418223633

Gene: PDHA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355499C= , CM000685.2:g.19355499C=	GRCh38
NC_000023.10:g.19373617C= , CM000685.1:g.19373617C=	GRCh37
NC_000023.9:g.19283538C=	NCBI36
NG_016781.1:g.16607C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.775C=	ENSP00000348062.6:p.Leu259=
ENST00000379805.4:c.*446C=	ENSP00000369133.3:n.*446C=
ENST00000417819.6:c.838C=	ENSP00000404616.2:p.Leu280=
ENST00000423505.6:c.868C=	ENSP00000406473.2:p.Leu290=
ENST00000481733.2:n.549C=
ENST00000696704.1:c.*86C=	ENSP00000512823.1:n.*86C=
ENST00000696705.1:c.*209C=	ENSP00000512824.1:n.*209C=
ENST00000422285.7:c.754C= MANE Select	ENSP00000394382.2:p.Leu252=
ENST00000379806.9:c.868C=	ENSP00000369134.5:p.Leu290=
ENST00000422285.6:c.754C=	ENSP00000394382.2:p.Leu252=
ENST00000481733.1:n.182C=
ENST00000540249.5:c.661C=	ENSP00000440761.1:p.Leu221=
ENST00000545074.5:c.775C=	ENSP00000438550.1:p.Leu259=
NM_000284.3:c.754C=	NP_000275.1:p.Leu252=
NM_001173454.1:c.868C=	NP_001166925.1:p.Leu290=
NM_001173455.1:c.775C=	NP_001166926.1:p.Leu259=
NM_001173456.1:c.661C=	NP_001166927.1:p.Leu221=
XM_011545531.1:c.889C=	XP_011543833.1:p.Leu297=
XM_011545532.1:c.796C=	XP_011543834.1:p.Leu266=
XM_017029574.2:c.775C=	XP_016885063.1:p.Leu259=
NM_000284.4:c.754C= MANE Select	NP_000275.1:p.Leu252=
NM_001173454.2:c.868C=	NP_001166925.1:p.Leu290=
NM_001173455.2:c.775C=	NP_001166926.1:p.Leu259=
NM_001173456.2:c.661C=	NP_001166927.1:p.Leu221=