Canonical Allele Identifier: CA1963501807

Gene: PDHX

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.34966740C= , CM000673.2:g.34966740C=	GRCh38
NC_000011.9:g.34988287C= , CM000673.1:g.34988287C=	GRCh37
NC_000011.8:g.34944863C=	NCBI36
NG_013368.1:g.55611C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000448838.8:c.562C=	ENSP00000389404.3:p.Gln188=
ENST00000227868.9:c.742C= MANE Select	ENSP00000227868.4:p.Gln248=
ENST00000227868.8:c.742C=	ENSP00000227868.4:p.Gln248=
ENST00000430469.6:c.343-17830C=	ENSP00000415695.2:n.343-17830C=
ENST00000448838.7:c.697C=	ENSP00000389404.2:p.Gln233=
NM_001135024.1:c.697C=	NP_001128496.1:p.Gln233=
NM_001166158.1:c.343-17830C=	NP_001159630.1:n.343-17830C=
NM_003477.2:c.742C=	NP_003468.2:p.Gln248=
XM_011520390.1:c.562C=	XP_011518692.1:p.Gln188=
NM_003477.3:c.742C= MANE Select	NP_003468.2:p.Gln248=
NM_001135024.2:c.562C=	NP_001128496.2:p.Gln188=
NM_001166158.2:c.343-17830C=	NP_001159630.1:n.343-17830C=