Canonical Allele Identifier: CA1963422763
Gene: PDHX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.34916784G= , CM000673.2:g.34916784G= GRCh38
NC_000011.9:g.34938331G= , CM000673.1:g.34938331G= GRCh37
NC_000011.8:g.34894907G= NCBI36
NG_013368.1:g.5655G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000448838.8:c.-21+298G= ENSP00000389404.3:n.-21+298G=
ENST00000227868.9:c.129G= MANE Select ENSP00000227868.4:p.Trp43=
ENST00000227868.8:c.129G= ENSP00000227868.4:p.Trp43=
ENST00000430469.6:c.129G= ENSP00000415695.2:p.Trp43=
ENST00000448838.7:c.115+298G= ENSP00000389404.2:n.115+298G=
ENST00000533262.1:c.129G= ENSP00000432277.1:p.Trp43=
ENST00000533550.5:c.-21+846G= ENSP00000431281.1:n.-21+846G=
NM_001135024.1:c.115+298G= NP_001128496.1:n.115+298G=
NM_001166158.1:c.129G= NP_001159630.1:p.Trp43=
NM_003477.2:c.129G= NP_003468.2:p.Trp43=
XM_011520390.1:c.-21+846G= XP_011518692.1:n.-21+846G=
NM_003477.3:c.129G= MANE Select NP_003468.2:p.Trp43=
NM_001135024.2:c.-21+298G= NP_001128496.2:n.-21+298G=
NM_001166158.2:c.129G= NP_001159630.1:p.Trp43=