Canonical Allele Identifier: CA128335157

Identifiers and link-outs to other resources

dbSNP Id: rs17167484

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.134371303T>G , CM000667.2:g.134371303T>G GRCh38
NC_000005.9:g.133706994T>G , CM000667.1:g.133706994T>G GRCh37
NC_000005.8:g.133734893T>G NCBI36
NG_042179.2:g.4745A>C
NG_046936.1:g.5128T>G

Transcript Alleles

HGVS Amino-acid change
NM_003337.3:c.-293T>G (UBE2B) VV NP_003328.1:p.=
XM_011543441.1:c.-224+95A>C (CDKL3) XP_011541743.1:p.=
XM_017009544.2:c.-937A>C (CDKL3) XP_016865033.1:p.=
XM_017009545.2:c.-742A>C (CDKL3) XP_016865034.1:p.=
XM_024446086.1:c.-327A>C (CDKL3) XP_024301854.1:p.=
XM_024446093.1:c.227+95A>C (CDKL3) XP_024301861.1:p.=
XM_024446096.1:c.-708A>C (CDKL3) XP_024301864.1:p.=
XM_024446097.1:c.-729A>C (CDKL3) XP_024301865.1:p.=
XM_024446099.1:c.-439+95A>C (CDKL3) XP_024301867.1:p.=
XM_024446100.1:c.-529A>C (CDKL3) XP_024301868.1:p.=
XM_024446101.1:c.-319A>C (CDKL3) XP_024301869.1:p.=
XM_024446103.1:c.-529A>C (CDKL3) XP_024301871.1:p.=
ENST00000265339.6:c.-293T>G ENSP00000265339.2:p.=