Canonical Allele Identifier: CA380120890

Gene: PDHX

Linked Data

• dbSNP Id: rs767272326
• MyVariant Identifiers: chr11:g.34988345G>A (hg19) ; chr11:g.34966798G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.34966798G>A , CM000673.2:g.34966798G>A	GRCh38
NC_000011.9:g.34988345G>A , CM000673.1:g.34988345G>A	GRCh37
NC_000011.8:g.34944921G>A	NCBI36
NG_013368.1:g.55669G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000448838.8:c.620G>A	ENSP00000389404.3:p.Gly207Glu
ENST00000227868.9:c.800G>A MANE Select	ENSP00000227868.4:p.Gly267Glu
ENST00000227868.8:c.800G>A	ENSP00000227868.4:p.Gly267Glu
ENST00000430469.6:c.343-17772G>A	ENSP00000415695.2:n.343-17772G>A
ENST00000448838.7:c.755G>A	ENSP00000389404.2:p.Gly252Glu
NM_001135024.1:c.755G>A	NP_001128496.1:p.Gly252Glu
NM_001166158.1:c.343-17772G>A	NP_001159630.1:n.343-17772G>A
NM_003477.2:c.800G>A	NP_003468.2:p.Gly267Glu
XM_011520390.1:c.620G>A	XP_011518692.1:p.Gly207Glu
NM_003477.3:c.800G>A MANE Select	NP_003468.2:p.Gly267Glu
NM_001135024.2:c.620G>A	NP_001128496.2:p.Gly207Glu
NM_001166158.2:c.343-17772G>A	NP_001159630.1:n.343-17772G>A