Canonical Allele Identifier: CA380120630

Gene: PDHX

Linked Data

• MyVariant Identifiers: chr11:g.34988263A>T (hg19) ; chr11:g.34966716A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.34966716A>T , CM000673.2:g.34966716A>T	GRCh38
NC_000011.9:g.34988263A>T , CM000673.1:g.34988263A>T	GRCh37
NC_000011.8:g.34944839A>T	NCBI36
NG_013368.1:g.55587A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000448838.8:c.538A>T	ENSP00000389404.3:p.Thr180Ser
ENST00000227868.9:c.718A>T MANE Select	ENSP00000227868.4:p.Thr240Ser
ENST00000227868.8:c.718A>T	ENSP00000227868.4:p.Thr240Ser
ENST00000430469.6:c.343-17854A>T	ENSP00000415695.2:n.343-17854A>T
ENST00000448838.7:c.673A>T	ENSP00000389404.2:p.Thr225Ser
NM_001135024.1:c.673A>T	NP_001128496.1:p.Thr225Ser
NM_001166158.1:c.343-17854A>T	NP_001159630.1:n.343-17854A>T
NM_003477.2:c.718A>T	NP_003468.2:p.Thr240Ser
XM_011520390.1:c.538A>T	XP_011518692.1:p.Thr180Ser
NM_003477.3:c.718A>T MANE Select	NP_003468.2:p.Thr240Ser
NM_001135024.2:c.538A>T	NP_001128496.2:p.Thr180Ser
NM_001166158.2:c.343-17854A>T	NP_001159630.1:n.343-17854A>T