Canonical Allele Identifier: CA115353
Gene: PDHX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.34960519G>A , CM000673.2:g.34960519G>A GRCh38
NC_000011.9:g.34982066G>A , CM000673.1:g.34982066G>A GRCh37
NC_000011.8:g.34938642G>A NCBI36
NG_013368.1:g.49390G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000448838.8:c.461+1G>A ENSP00000389404.3:n.461+1G>A
ENST00000227868.9:c.641+1G>A MANE Select ENSP00000227868.4:n.641+1G>A
ENST00000227868.8:c.641+1G>A ENSP00000227868.4:n.641+1G>A
ENST00000430469.6:c.342+12913G>A ENSP00000415695.2:n.342+12913G>A
ENST00000448838.7:c.596+1G>A ENSP00000389404.2:n.596+1G>A
NM_001135024.1:c.596+1G>A NP_001128496.1:n.596+1G>A
NM_001166158.1:c.342+12913G>A NP_001159630.1:n.342+12913G>A
NM_003477.2:c.641+1G>A NP_003468.2:n.641+1G>A
XM_011520390.1:c.461+1G>A XP_011518692.1:n.461+1G>A
NM_003477.3:c.641+1G>A MANE Select NP_003468.2:n.641+1G>A
NM_001135024.2:c.461+1G>A NP_001128496.2:n.461+1G>A
NM_001166158.2:c.342+12913G>A NP_001159630.1:n.342+12913G>A