Canonical Allele Identifier: CA380124041

Gene: PDHX

Linked Data

• ClinVar Variation Id: 1352733
• ClinVar RCV Id: RCV002039914
• dbSNP Id: rs2133932214
• MyVariant Identifiers: chr11:g.34938353T>A (hg19) ; chr11:g.34916806T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.34916806T>A , CM000673.2:g.34916806T>A	GRCh38
NC_000011.9:g.34938353T>A , CM000673.1:g.34938353T>A	GRCh37
NC_000011.8:g.34894929T>A	NCBI36
NG_013368.1:g.5677T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000448838.8:c.-21+320T>A	ENSP00000389404.3:n.-21+320T>A
ENST00000227868.9:c.151T>A MANE Select	ENSP00000227868.4:p.Trp51Arg
ENST00000227868.8:c.151T>A	ENSP00000227868.4:p.Trp51Arg
ENST00000430469.6:c.151T>A	ENSP00000415695.2:p.Trp51Arg
ENST00000448838.7:c.115+320T>A	ENSP00000389404.2:n.115+320T>A
ENST00000533262.1:c.151T>A	ENSP00000432277.1:p.Trp51Arg
ENST00000533550.5:c.-21+868T>A	ENSP00000431281.1:n.-21+868T>A
NM_001135024.1:c.115+320T>A	NP_001128496.1:n.115+320T>A
NM_001166158.1:c.151T>A	NP_001159630.1:p.Trp51Arg
NM_003477.2:c.151T>A	NP_003468.2:p.Trp51Arg
XM_011520390.1:c.-21+868T>A	XP_011518692.1:n.-21+868T>A
NM_003477.3:c.151T>A MANE Select	NP_003468.2:p.Trp51Arg
NM_001135024.2:c.-21+320T>A	NP_001128496.2:n.-21+320T>A
NM_001166158.2:c.151T>A	NP_001159630.1:p.Trp51Arg