Canonical Allele Identifier: CA2418223603

Gene: PDHA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355405C= , CM000685.2:g.19355405C=	GRCh38
NC_000023.10:g.19373523C= , CM000685.1:g.19373523C=	GRCh37
NC_000023.9:g.19283444C=	NCBI36
NG_016781.1:g.16513C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.681C=	ENSP00000348062.6:p.Phe227=
ENST00000379805.4:c.*352C=	ENSP00000369133.3:n.*352C=
ENST00000417819.6:c.744C=	ENSP00000404616.2:p.Phe248=
ENST00000423505.6:c.774C=	ENSP00000406473.2:p.Phe258=
ENST00000481733.2:n.455C=
ENST00000696704.1:c.475C=	ENSP00000512823.1:p.His159=
ENST00000696705.1:c.*115C=	ENSP00000512824.1:n.*115C=
ENST00000422285.7:c.660C= MANE Select	ENSP00000394382.2:p.Phe220=
ENST00000379806.9:c.774C=	ENSP00000369134.5:p.Phe258=
ENST00000422285.6:c.660C=	ENSP00000394382.2:p.Phe220=
ENST00000479146.1:n.495C=
ENST00000481733.1:n.88C=
ENST00000540249.5:c.567C=	ENSP00000440761.1:p.Phe189=
ENST00000545074.5:c.681C=	ENSP00000438550.1:p.Phe227=
NM_000284.3:c.660C=	NP_000275.1:p.Phe220=
NM_001173454.1:c.774C=	NP_001166925.1:p.Phe258=
NM_001173455.1:c.681C=	NP_001166926.1:p.Phe227=
NM_001173456.1:c.567C=	NP_001166927.1:p.Phe189=
XM_011545531.1:c.795C=	XP_011543833.1:p.Phe265=
XM_011545532.1:c.702C=	XP_011543834.1:p.Phe234=
XM_017029574.2:c.681C=	XP_016885063.1:p.Phe227=
NM_000284.4:c.660C= MANE Select	NP_000275.1:p.Phe220=
NM_001173454.2:c.774C=	NP_001166925.1:p.Phe258=
NM_001173455.2:c.681C=	NP_001166926.1:p.Phe227=
NM_001173456.2:c.567C=	NP_001166927.1:p.Phe189=