Canonical Allele Identifier: CA5945821

Gene: PDHX

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.34947581A>G , CM000673.2:g.34947581A>G	GRCh38
NC_000011.9:g.34969128A>G , CM000673.1:g.34969128A>G	GRCh37
NC_000011.8:g.34925704A>G	NCBI36
NG_013368.1:g.36452A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_003477.3:c.317A>G MANE Select	NP_003468.2:p.Asp106Gly
ENST00000227868.9:c.317A>G MANE Select	ENSP00000227868.4:p.Asp106Gly
NM_001135024.1:c.272A>G	NP_001128496.1:p.Asp91Gly
NM_001135024.2:c.137A>G	NP_001128496.2:p.Asp46Gly
NM_001166158.1:c.317A>G	NP_001159630.1:p.Asp106Gly
NM_001166158.2:c.317A>G	NP_001159630.1:p.Asp106Gly
NM_003477.2:c.317A>G	NP_003468.2:p.Asp106Gly
ENST00000227868.8:c.317A>G	ENSP00000227868.4:p.Asp106Gly
ENST00000430469.6:c.317A>G	ENSP00000415695.2:p.Asp106Gly
ENST00000448838.7:c.272A>G	ENSP00000389404.2:p.Asp91Gly
ENST00000448838.8:c.137A>G	ENSP00000389404.3:p.Asp46Gly
ENST00000533262.1:c.236A>G	ENSP00000432277.1:p.Asp79Gly
ENST00000533550.5:c.137A>G	ENSP00000431281.1:p.Asp46Gly
XM_011520390.1:c.137A>G	XP_011518692.1:p.Asp46Gly