Canonical Allele Identifier: CA1584036638

Gene: CDKL3

Linked Data

• dbSNP Id: rs1758358438

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.134371123A>G , CM000667.2:g.134371123A>G	GRCh38
NC_000005.9:g.133706814A>G , CM000667.1:g.133706814A>G	GRCh37
NC_000005.8:g.133734713A>G	NCBI36
NG_042179.2:g.4925T>C
NG_046936.1:g.4948A>G

Transcript Alleles

HGVS	Amino-acid Change
XM_011543441.1:c.-224+275T>C	XP_011541743.1:n.-224+275T>C
XM_017009544.2:c.-757T>C	XP_016865033.1:n.-757T>C
XM_017009545.2:c.-562T>C	XP_016865034.1:n.-562T>C
XM_024446086.1:c.-147T>C	XP_024301854.1:n.-147T>C
XM_024446093.1:c.227+275T>C	XP_024301861.1:n.227+275T>C
XM_024446096.1:c.-528T>C	XP_024301864.1:n.-528T>C
XM_024446097.1:c.-549T>C	XP_024301865.1:n.-549T>C
XM_024446099.1:c.-439+275T>C	XP_024301867.1:n.-439+275T>C
XM_024446100.1:c.-349T>C	XP_024301868.1:n.-349T>C
XM_024446101.1:c.-139T>C	XP_024301869.1:n.-139T>C
XM_024446103.1:c.-349T>C	XP_024301871.1:n.-349T>C