Canonical Allele Identifier: CA322701

Gene: PDHX

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.34916815G>A , CM000673.2:g.34916815G>A	GRCh38
NC_000011.9:g.34938362G>A , CM000673.1:g.34938362G>A	GRCh37
NC_000011.8:g.34894938G>A	NCBI36
NG_013368.1:g.5686G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000448838.8:c.-21+329G>A	ENSP00000389404.3:n.-21+329G>A
ENST00000227868.9:c.160G>A MANE Select	ENSP00000227868.4:p.Gly54Ser
ENST00000227868.8:c.160G>A	ENSP00000227868.4:p.Gly54Ser
ENST00000430469.6:c.160G>A	ENSP00000415695.2:p.Gly54Ser
ENST00000448838.7:c.115+329G>A	ENSP00000389404.2:n.115+329G>A
ENST00000533262.1:c.160G>A	ENSP00000432277.1:p.Gly54Ser
ENST00000533550.5:c.-21+877G>A	ENSP00000431281.1:n.-21+877G>A
NM_001135024.1:c.115+329G>A	NP_001128496.1:n.115+329G>A
NM_001166158.1:c.160G>A	NP_001159630.1:p.Gly54Ser
NM_003477.2:c.160G>A	NP_003468.2:p.Gly54Ser
XM_011520390.1:c.-21+877G>A	XP_011518692.1:n.-21+877G>A
NM_003477.3:c.160G>A MANE Select	NP_003468.2:p.Gly54Ser
NM_001135024.2:c.-21+329G>A	NP_001128496.2:n.-21+329G>A
NM_001166158.2:c.160G>A	NP_001159630.1:p.Gly54Ser