Canonical Allele Identifier: CA1584036774

Gene: UBE2B CDKL3

Linked Data

• dbSNP Id: rs547863309
• gnomAD v4: 5-134371308-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.134371308C>A , CM000667.2:g.134371308C>A	GRCh38
NC_000005.9:g.133706999C>A , CM000667.1:g.133706999C>A	GRCh37
NC_000005.8:g.133734898C>A	NCBI36
NG_042179.2:g.4740G>T
NG_046936.1:g.5133C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000507277.2:c.-288C>A (UBE2B)	ENSP00000425137.2:n.-288C>A
ENST00000265339.6:c.-288C>A (UBE2B)	ENSP00000265339.2:n.-288C>A
NM_003337.3:c.-288C>A (UBE2B)	NP_003328.1:n.-288C>A
XM_011543441.1:c.-224+90G>T (CDKL3)	XP_011541743.1:n.-224+90G>T
XM_017009544.2:c.-942G>T (CDKL3)	XP_016865033.1:n.-942G>T
XM_017009545.2:c.-747G>T (CDKL3)	XP_016865034.1:n.-747G>T
XM_024446086.1:c.-332G>T (CDKL3)	XP_024301854.1:n.-332G>T
XM_024446093.1:c.227+90G>T (CDKL3)	XP_024301861.1:n.227+90G>T
XM_024446096.1:c.-713G>T (CDKL3)	XP_024301864.1:n.-713G>T
XM_024446097.1:c.-734G>T (CDKL3)	XP_024301865.1:n.-734G>T
XM_024446099.1:c.-439+90G>T (CDKL3)	XP_024301867.1:n.-439+90G>T
XM_024446100.1:c.-534G>T (CDKL3)	XP_024301868.1:n.-534G>T
XM_024446101.1:c.-324G>T (CDKL3)	XP_024301869.1:n.-324G>T
XM_024446103.1:c.-534G>T (CDKL3)	XP_024301871.1:n.-534G>T