Canonical Allele Identifier: CA2675303536

Gene: UBE2B CDKL3

Linked Data

• gnomAD v4: 5-134371231-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.134371231G>T , CM000667.2:g.134371231G>T	GRCh38
NC_000005.9:g.133706922G>T , CM000667.1:g.133706922G>T	GRCh37
NC_000005.8:g.133734821G>T	NCBI36
NG_042179.2:g.4817C>A
NG_046936.1:g.5056G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000507277.2:c.-365G>T (UBE2B)	ENSP00000425137.2:n.-365G>T
ENST00000265339.6:c.-365G>T (UBE2B)	ENSP00000265339.2:n.-365G>T
NM_003337.3:c.-365G>T (UBE2B)	NP_003328.1:n.-365G>T
XM_011543441.1:c.-224+167C>A (CDKL3)	XP_011541743.1:n.-224+167C>A
XM_017009544.2:c.-865C>A (CDKL3)	XP_016865033.1:n.-865C>A
XM_017009545.2:c.-670C>A (CDKL3)	XP_016865034.1:n.-670C>A
XM_024446086.1:c.-255C>A (CDKL3)	XP_024301854.1:n.-255C>A
XM_024446093.1:c.227+167C>A (CDKL3)	XP_024301861.1:n.227+167C>A
XM_024446096.1:c.-636C>A (CDKL3)	XP_024301864.1:n.-636C>A
XM_024446097.1:c.-657C>A (CDKL3)	XP_024301865.1:n.-657C>A
XM_024446099.1:c.-439+167C>A (CDKL3)	XP_024301867.1:n.-439+167C>A
XM_024446100.1:c.-457C>A (CDKL3)	XP_024301868.1:n.-457C>A
XM_024446101.1:c.-247C>A (CDKL3)	XP_024301869.1:n.-247C>A
XM_024446103.1:c.-457C>A (CDKL3)	XP_024301871.1:n.-457C>A