Canonical Allele Identifier: CA2675303537

Gene: UBE2B CDKL3

Linked Data

• gnomAD v4: 5-134371232-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.134371232G>T , CM000667.2:g.134371232G>T	GRCh38
NC_000005.9:g.133706923G>T , CM000667.1:g.133706923G>T	GRCh37
NC_000005.8:g.133734822G>T	NCBI36
NG_042179.2:g.4816C>A
NG_046936.1:g.5057G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000507277.2:c.-364G>T (UBE2B)	ENSP00000425137.2:n.-364G>T
ENST00000265339.6:c.-364G>T (UBE2B)	ENSP00000265339.2:n.-364G>T
NM_003337.3:c.-364G>T (UBE2B)	NP_003328.1:n.-364G>T
XM_011543441.1:c.-224+166C>A (CDKL3)	XP_011541743.1:n.-224+166C>A
XM_017009544.2:c.-866C>A (CDKL3)	XP_016865033.1:n.-866C>A
XM_017009545.2:c.-671C>A (CDKL3)	XP_016865034.1:n.-671C>A
XM_024446086.1:c.-256C>A (CDKL3)	XP_024301854.1:n.-256C>A
XM_024446093.1:c.227+166C>A (CDKL3)	XP_024301861.1:n.227+166C>A
XM_024446096.1:c.-637C>A (CDKL3)	XP_024301864.1:n.-637C>A
XM_024446097.1:c.-658C>A (CDKL3)	XP_024301865.1:n.-658C>A
XM_024446099.1:c.-439+166C>A (CDKL3)	XP_024301867.1:n.-439+166C>A
XM_024446100.1:c.-458C>A (CDKL3)	XP_024301868.1:n.-458C>A
XM_024446101.1:c.-248C>A (CDKL3)	XP_024301869.1:n.-248C>A
XM_024446103.1:c.-458C>A (CDKL3)	XP_024301871.1:n.-458C>A