Canonical Allele Identifier: CA2418223748

Gene: PDHA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355710G= , CM000685.2:g.19355710G=	GRCh38
NC_000023.10:g.19373828G= , CM000685.1:g.19373828G=	GRCh37
NC_000023.9:g.19283749G=	NCBI36
NG_016781.1:g.16818G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.805G=	ENSP00000348062.6:p.Val269=
ENST00000379805.4:c.*476G=	ENSP00000369133.3:n.*476G=
ENST00000417819.6:c.868G=	ENSP00000404616.2:p.Val290=
ENST00000423505.6:c.898G=	ENSP00000406473.2:p.Val300=
ENST00000481733.2:n.579G=
ENST00000696704.1:c.*116G=	ENSP00000512823.1:n.*116G=
ENST00000696705.1:c.*239G=	ENSP00000512824.1:n.*239G=
ENST00000422285.7:c.784G= MANE Select	ENSP00000394382.2:p.Val262=
ENST00000379804.1:c.-60G=	ENSP00000369132.1:n.-60G=
ENST00000379806.9:c.898G=	ENSP00000369134.5:p.Val300=
ENST00000422285.6:c.784G=	ENSP00000394382.2:p.Val262=
ENST00000481733.1:n.212G=
ENST00000540249.5:c.691G=	ENSP00000440761.1:p.Val231=
ENST00000545074.5:c.805G=	ENSP00000438550.1:p.Val269=
NM_000284.3:c.784G=	NP_000275.1:p.Val262=
NM_001173454.1:c.898G=	NP_001166925.1:p.Val300=
NM_001173455.1:c.805G=	NP_001166926.1:p.Val269=
NM_001173456.1:c.691G=	NP_001166927.1:p.Val231=
XM_011545531.1:c.919G=	XP_011543833.1:p.Val307=
XM_011545532.1:c.826G=	XP_011543834.1:p.Val276=
XM_017029574.2:c.805G=	XP_016885063.1:p.Val269=
NM_000284.4:c.784G= MANE Select	NP_000275.1:p.Val262=
NM_001173454.2:c.898G=	NP_001166925.1:p.Val300=
NM_001173455.2:c.805G=	NP_001166926.1:p.Val269=
NM_001173456.2:c.691G=	NP_001166927.1:p.Val231=