Canonical Allele Identifier: CA5945887

Gene: PDHX

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.34957573G>A , CM000673.2:g.34957573G>A	GRCh38
NC_000011.9:g.34979120G>A , CM000673.1:g.34979120G>A	GRCh37
NC_000011.8:g.34935696G>A	NCBI36
NG_013368.1:g.46444G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000448838.8:c.352G>A	ENSP00000389404.3:p.Gly118Arg
ENST00000227868.9:c.532G>A MANE Select	ENSP00000227868.4:p.Gly178Arg
ENST00000227868.8:c.532G>A	ENSP00000227868.4:p.Gly178Arg
ENST00000430469.6:c.342+9967G>A	ENSP00000415695.2:n.342+9967G>A
ENST00000448838.7:c.487G>A	ENSP00000389404.2:p.Gly163Arg
ENST00000533262.1:c.451G>A	ENSP00000432277.1:p.Gly151Arg
ENST00000533550.5:c.352G>A	ENSP00000431281.1:p.Gly118Arg
NM_001135024.1:c.487G>A	NP_001128496.1:p.Gly163Arg
NM_001166158.1:c.342+9967G>A	NP_001159630.1:n.342+9967G>A
NM_003477.2:c.532G>A	NP_003468.2:p.Gly178Arg
XM_011520390.1:c.352G>A	XP_011518692.1:p.Gly118Arg
NM_003477.3:c.532G>A MANE Select	NP_003468.2:p.Gly178Arg
NM_001135024.2:c.352G>A	NP_001128496.2:p.Gly118Arg
NM_001166158.2:c.342+9967G>A	NP_001159630.1:n.342+9967G>A