Canonical Allele Identifier: CA2418223625

Gene: PDHA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355476A= , CM000685.2:g.19355476A=	GRCh38
NC_000023.10:g.19373594A= , CM000685.1:g.19373594A=	GRCh37
NC_000023.9:g.19283515A=	NCBI36
NG_016781.1:g.16584A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.752A=	ENSP00000348062.6:p.Lys251=
ENST00000379805.4:c.*423A=	ENSP00000369133.3:n.*423A=
ENST00000417819.6:c.815A=	ENSP00000404616.2:p.Lys272=
ENST00000423505.6:c.845A=	ENSP00000406473.2:p.Lys282=
ENST00000481733.2:n.526A=
ENST00000696704.1:c.*63A=	ENSP00000512823.1:n.*63A=
ENST00000696705.1:c.*186A=	ENSP00000512824.1:n.*186A=
ENST00000422285.7:c.731A= MANE Select	ENSP00000394382.2:p.Lys244=
ENST00000379806.9:c.845A=	ENSP00000369134.5:p.Lys282=
ENST00000422285.6:c.731A=	ENSP00000394382.2:p.Lys244=
ENST00000481733.1:n.159A=
ENST00000540249.5:c.638A=	ENSP00000440761.1:p.Lys213=
ENST00000545074.5:c.752A=	ENSP00000438550.1:p.Lys251=
NM_000284.3:c.731A=	NP_000275.1:p.Lys244=
NM_001173454.1:c.845A=	NP_001166925.1:p.Lys282=
NM_001173455.1:c.752A=	NP_001166926.1:p.Lys251=
NM_001173456.1:c.638A=	NP_001166927.1:p.Lys213=
XM_011545531.1:c.866A=	XP_011543833.1:p.Lys289=
XM_011545532.1:c.773A=	XP_011543834.1:p.Lys258=
XM_017029574.2:c.752A=	XP_016885063.1:p.Lys251=
NM_000284.4:c.731A= MANE Select	NP_000275.1:p.Lys244=
NM_001173454.2:c.845A=	NP_001166925.1:p.Lys282=
NM_001173455.2:c.752A=	NP_001166926.1:p.Lys251=
NM_001173456.2:c.638A=	NP_001166927.1:p.Lys213=