Canonical Allele Identifier: CA128335141

Gene: UBE2B CDKL3

Linked Data

• dbSNP Id: rs746428388
• gnomAD v3: 5-134371235-T-C
• gnomAD v4: 5-134371235-T-C
• MyVariant Identifiers: chr5:g.133706926T>C (hg19) ; chr5:g.134371235T>C (hg38)

Genomic Alleles

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

Transcript Alleles

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