Canonical Allele Identifier: CA220486381

Gene: PDHX

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.34931657G>A , CM000673.2:g.34931657G>A	GRCh38
NC_000011.9:g.34953204G>A , CM000673.1:g.34953204G>A	GRCh37
NC_000011.8:g.34909780G>A	NCBI36
NG_013368.1:g.20528G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_003477.3:c.241+173G>A MANE Select	NP_003468.2:n.241+173G>A
ENST00000227868.9:c.241+173G>A MANE Select	ENSP00000227868.4:n.241+173G>A
NM_001135024.1:c.196+173G>A	NP_001128496.1:n.196+173G>A
NM_001135024.2:c.61+173G>A	NP_001128496.2:n.61+173G>A
NM_001166158.1:c.241+173G>A	NP_001159630.1:n.241+173G>A
NM_001166158.2:c.241+173G>A	NP_001159630.1:n.241+173G>A
NM_003477.2:c.241+173G>A	NP_003468.2:n.241+173G>A
ENST00000227868.8:c.241+173G>A	ENSP00000227868.4:n.241+173G>A
ENST00000430469.6:c.241+173G>A	ENSP00000415695.2:n.241+173G>A
ENST00000448838.7:c.196+173G>A	ENSP00000389404.2:n.196+173G>A
ENST00000448838.8:c.61+173G>A	ENSP00000389404.3:n.61+173G>A
ENST00000533262.1:c.160+14842G>A	ENSP00000432277.1:n.160+14842G>A
ENST00000533550.5:c.61+173G>A	ENSP00000431281.1:n.61+173G>A
XM_011520390.1:c.61+173G>A	XP_011518692.1:n.61+173G>A