Canonical Allele Identifier: CA380120762

Gene: PDHX

Linked Data

• MyVariant Identifiers: chr11:g.34988320G>A (hg19) ; chr11:g.34966773G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.34966773G>A , CM000673.2:g.34966773G>A	GRCh38
NC_000011.9:g.34988320G>A , CM000673.1:g.34988320G>A	GRCh37
NC_000011.8:g.34944896G>A	NCBI36
NG_013368.1:g.55644G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000448838.8:c.595G>A	ENSP00000389404.3:p.Val199Met
ENST00000227868.9:c.775G>A MANE Select	ENSP00000227868.4:p.Val259Met
ENST00000227868.8:c.775G>A	ENSP00000227868.4:p.Val259Met
ENST00000430469.6:c.343-17797G>A	ENSP00000415695.2:n.343-17797G>A
ENST00000448838.7:c.730G>A	ENSP00000389404.2:p.Val244Met
NM_001135024.1:c.730G>A	NP_001128496.1:p.Val244Met
NM_001166158.1:c.343-17797G>A	NP_001159630.1:n.343-17797G>A
NM_003477.2:c.775G>A	NP_003468.2:p.Val259Met
XM_011520390.1:c.595G>A	XP_011518692.1:p.Val199Met
NM_003477.3:c.775G>A MANE Select	NP_003468.2:p.Val259Met
NM_001135024.2:c.595G>A	NP_001128496.2:p.Val199Met
NM_001166158.2:c.343-17797G>A	NP_001159630.1:n.343-17797G>A