Canonical Allele Identifier: CA115354
Gene: PDHX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.34984569G>A , CM000673.2:g.34984569G>A GRCh38
NC_000011.9:g.35006116G>A , CM000673.1:g.35006116G>A GRCh37
NC_000011.8:g.34962692G>A NCBI36
NG_013368.1:g.73440G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000448838.8:c.844-1G>A ENSP00000389404.3:n.844-1G>A
ENST00000227868.9:c.1024-1G>A MANE Select ENSP00000227868.4:n.1024-1G>A
ENST00000227868.8:c.1024-1G>A ENSP00000227868.4:n.1024-1G>A
ENST00000430469.6:c.343-1G>A ENSP00000415695.2:n.343-1G>A
ENST00000448838.7:c.979-1G>A ENSP00000389404.2:n.979-1G>A
ENST00000526309.1:c.87-1G>A
ENST00000532159.1:n.249-1G>A
NM_001135024.1:c.979-1G>A NP_001128496.1:n.979-1G>A
NM_001166158.1:c.343-1G>A NP_001159630.1:n.343-1G>A
NM_003477.2:c.1024-1G>A NP_003468.2:n.1024-1G>A
XM_011520390.1:c.844-1G>A XP_011518692.1:n.844-1G>A
NM_003477.3:c.1024-1G>A MANE Select NP_003468.2:n.1024-1G>A
NM_001135024.2:c.844-1G>A NP_001128496.2:n.844-1G>A
NM_001166158.2:c.343-1G>A NP_001159630.1:n.343-1G>A