Canonical Allele Identifier: CA1963422108

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.34916461C= , CM000673.2:g.34916461C= GRCh38
NC_000011.9:g.34938008C= , CM000673.1:g.34938008C= GRCh37
NC_000011.8:g.34894584C= NCBI36
NG_013368.1:g.5332C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000448838.8:c.-46C= (PDHX) ENSP00000389404.3:n.-46C=
ENST00000395787.3:c.-177G= (APIP) ENSP00000379133.3:n.-177G=
ENST00000448838.7:c.90C= (PDHX) ENSP00000389404.2:p.Ser30=
ENST00000533550.5:c.-21+523C= (PDHX) ENSP00000431281.1:n.-21+523C=
NM_001135024.1:c.90C= (PDHX) NP_001128496.1:p.Ser30=
NM_001166158.1:c.-195C= (PDHX) NP_001159630.1:n.-195C=
NM_003477.2:c.-195C= (PDHX) NP_003468.2:n.-195C=
XM_011520390.1:c.-21+523C= (PDHX) XP_011518692.1:n.-21+523C=
NM_001135024.2:c.-46C= (PDHX) NP_001128496.2:n.-46C=