Canonical Allele Identifier: CA322110

Gene: PDHX

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.34994922A>G , CM000673.2:g.34994922A>G	GRCh38
NC_000011.9:g.35016469A>G , CM000673.1:g.35016469A>G	GRCh37
NC_000011.8:g.34973045A>G	NCBI36
NG_013368.1:g.83793A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_003477.3:c.1256A>G MANE Select	NP_003468.2:p.Asn419Ser
ENST00000227868.9:c.1256A>G MANE Select	ENSP00000227868.4:p.Asn419Ser
NM_001135024.1:c.1211A>G	NP_001128496.1:p.Asn404Ser
NM_001135024.2:c.1076A>G	NP_001128496.2:p.Asn359Ser
NM_001166158.1:c.575A>G	NP_001159630.1:p.Asn192Ser
NM_001166158.2:c.575A>G	NP_001159630.1:p.Asn192Ser
NM_003477.2:c.1256A>G	NP_003468.2:p.Asn419Ser
ENST00000227868.8:c.1256A>G	ENSP00000227868.4:p.Asn419Ser
ENST00000430469.6:c.575A>G	ENSP00000415695.2:p.Asn192Ser
ENST00000448838.7:c.1211A>G	ENSP00000389404.2:p.Asn404Ser
ENST00000448838.8:c.1076A>G	ENSP00000389404.3:p.Asn359Ser
ENST00000477173.3:n.161+2543A>G
ENST00000526309.1:c.319A>G
XM_011520390.1:c.1076A>G	XP_011518692.1:p.Asn359Ser