Canonical Allele Identifier: CA2675303538

Gene: UBE2B CDKL3

Linked Data

• gnomAD v4: 5-134371235-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.134371235T>A , CM000667.2:g.134371235T>A	GRCh38
NC_000005.9:g.133706926T>A , CM000667.1:g.133706926T>A	GRCh37
NC_000005.8:g.133734825T>A	NCBI36
NG_042179.2:g.4813A>T
NG_046936.1:g.5060T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000507277.2:c.-361T>A (UBE2B)	ENSP00000425137.2:n.-361T>A
ENST00000265339.6:c.-361T>A (UBE2B)	ENSP00000265339.2:n.-361T>A
NM_003337.3:c.-361T>A (UBE2B)	NP_003328.1:n.-361T>A
XM_011543441.1:c.-224+163A>T (CDKL3)	XP_011541743.1:n.-224+163A>T
XM_017009544.2:c.-869A>T (CDKL3)	XP_016865033.1:n.-869A>T
XM_017009545.2:c.-674A>T (CDKL3)	XP_016865034.1:n.-674A>T
XM_024446086.1:c.-259A>T (CDKL3)	XP_024301854.1:n.-259A>T
XM_024446093.1:c.227+163A>T (CDKL3)	XP_024301861.1:n.227+163A>T
XM_024446096.1:c.-640A>T (CDKL3)	XP_024301864.1:n.-640A>T
XM_024446097.1:c.-661A>T (CDKL3)	XP_024301865.1:n.-661A>T
XM_024446099.1:c.-439+163A>T (CDKL3)	XP_024301867.1:n.-439+163A>T
XM_024446100.1:c.-461A>T (CDKL3)	XP_024301868.1:n.-461A>T
XM_024446101.1:c.-251A>T (CDKL3)	XP_024301869.1:n.-251A>T
XM_024446103.1:c.-461A>T (CDKL3)	XP_024301871.1:n.-461A>T