Canonical Allele Identifier: CA380120659

Gene: PDHX

Linked Data

• MyVariant Identifiers: chr11:g.34988278T>G (hg19) ; chr11:g.34966731T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.34966731T>G , CM000673.2:g.34966731T>G	GRCh38
NC_000011.9:g.34988278T>G , CM000673.1:g.34988278T>G	GRCh37
NC_000011.8:g.34944854T>G	NCBI36
NG_013368.1:g.55602T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000448838.8:c.553T>G	ENSP00000389404.3:p.Ser185Ala
ENST00000227868.9:c.733T>G MANE Select	ENSP00000227868.4:p.Ser245Ala
ENST00000227868.8:c.733T>G	ENSP00000227868.4:p.Ser245Ala
ENST00000430469.6:c.343-17839T>G	ENSP00000415695.2:n.343-17839T>G
ENST00000448838.7:c.688T>G	ENSP00000389404.2:p.Ser230Ala
NM_001135024.1:c.688T>G	NP_001128496.1:p.Ser230Ala
NM_001166158.1:c.343-17839T>G	NP_001159630.1:n.343-17839T>G
NM_003477.2:c.733T>G	NP_003468.2:p.Ser245Ala
XM_011520390.1:c.553T>G	XP_011518692.1:p.Ser185Ala
NM_003477.3:c.733T>G MANE Select	NP_003468.2:p.Ser245Ala
NM_001135024.2:c.553T>G	NP_001128496.2:p.Ser185Ala
NM_001166158.2:c.343-17839T>G	NP_001159630.1:n.343-17839T>G