Canonical Allele Identifier: CA115356

Gene: PDHX

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
NM_003477.3:c.742C>T MANE Select	NP_003468.2:p.Gln248Ter
ENST00000227868.9:c.742C>T MANE Select	ENSP00000227868.4:p.Gln248Ter
NM_001135024.1:c.697C>T	NP_001128496.1:p.Gln233Ter
NM_001135024.2:c.562C>T	NP_001128496.2:p.Gln188Ter
NM_001166158.1:c.343-17830C>T	NP_001159630.1:n.343-17830C>T
NM_001166158.2:c.343-17830C>T	NP_001159630.1:n.343-17830C>T
NM_003477.2:c.742C>T	NP_003468.2:p.Gln248Ter
ENST00000227868.8:c.742C>T	ENSP00000227868.4:p.Gln248Ter
ENST00000430469.6:c.343-17830C>T	ENSP00000415695.2:n.343-17830C>T
ENST00000448838.7:c.697C>T	ENSP00000389404.2:p.Gln233Ter
ENST00000448838.8:c.562C>T	ENSP00000389404.3:p.Gln188Ter
XM_011520390.1:c.562C>T	XP_011518692.1:p.Gln188Ter