Canonical Allele Identifier: CA804153734

Gene: UBE2B CDKL3

Linked Data

• dbSNP Id: rs1465886874
• gnomAD v3: 5-134371312-A-G
• gnomAD v4: 5-134371312-A-G
• MyVariant Identifiers: chr5:g.133707003A>G (hg19) ; chr5:g.134371312A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.134371312A>G , CM000667.2:g.134371312A>G	GRCh38
NC_000005.9:g.133707003A>G , CM000667.1:g.133707003A>G	GRCh37
NC_000005.8:g.133734902A>G	NCBI36
NG_042179.2:g.4736T>C
NG_046936.1:g.5137A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000507277.2:c.-284A>G (UBE2B)	ENSP00000425137.2:n.-284A>G
ENST00000265339.6:c.-284A>G (UBE2B)	ENSP00000265339.2:n.-284A>G
NM_003337.3:c.-284A>G (UBE2B)	NP_003328.1:n.-284A>G
XM_011543441.1:c.-224+86T>C (CDKL3)	XP_011541743.1:n.-224+86T>C
XM_017009544.2:c.-946T>C (CDKL3)	XP_016865033.1:n.-946T>C
XM_017009545.2:c.-751T>C (CDKL3)	XP_016865034.1:n.-751T>C
XM_024446086.1:c.-336T>C (CDKL3)	XP_024301854.1:n.-336T>C
XM_024446093.1:c.227+86T>C (CDKL3)	XP_024301861.1:n.227+86T>C
XM_024446096.1:c.-717T>C (CDKL3)	XP_024301864.1:n.-717T>C
XM_024446097.1:c.-738T>C (CDKL3)	XP_024301865.1:n.-738T>C
XM_024446099.1:c.-439+86T>C (CDKL3)	XP_024301867.1:n.-439+86T>C
XM_024446100.1:c.-538T>C (CDKL3)	XP_024301868.1:n.-538T>C
XM_024446101.1:c.-328T>C (CDKL3)	XP_024301869.1:n.-328T>C
XM_024446103.1:c.-538T>C (CDKL3)	XP_024301871.1:n.-538T>C