Canonical Allele Identifier: CA220463743

Gene: PDHX

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.34957680A>G , CM000673.2:g.34957680A>G	GRCh38
NC_000011.9:g.34979227A>G , CM000673.1:g.34979227A>G	GRCh37
NC_000011.8:g.34935803A>G	NCBI36
NG_013368.1:g.46551A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_003477.3:c.542+97A>G MANE Select	NP_003468.2:n.542+97A>G
ENST00000227868.9:c.542+97A>G MANE Select	ENSP00000227868.4:n.542+97A>G
NM_001135024.1:c.497+97A>G	NP_001128496.1:n.497+97A>G
NM_001135024.2:c.362+97A>G	NP_001128496.2:n.362+97A>G
NM_001166158.1:c.342+10074A>G	NP_001159630.1:n.342+10074A>G
NM_001166158.2:c.342+10074A>G	NP_001159630.1:n.342+10074A>G
NM_003477.2:c.542+97A>G	NP_003468.2:n.542+97A>G
ENST00000227868.8:c.542+97A>G	ENSP00000227868.4:n.542+97A>G
ENST00000430469.6:c.342+10074A>G	ENSP00000415695.2:n.342+10074A>G
ENST00000448838.7:c.497+97A>G	ENSP00000389404.2:n.497+97A>G
ENST00000448838.8:c.362+97A>G	ENSP00000389404.3:n.362+97A>G
ENST00000533262.1:c.461+97A>G	ENSP00000432277.1:n.461+97A>G
ENST00000533550.5:c.362+97A>G	ENSP00000431281.1:n.362+97A>G
XM_011520390.1:c.362+97A>G	XP_011518692.1:n.362+97A>G