Canonical Allele Identifier: CA128335107

Gene: CDKL3

Linked Data

• dbSNP Id: rs570577686
• MyVariant Identifiers: chr5:g.133706757G>C (hg19) ; chr5:g.134371066G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.134371066G>C , CM000667.2:g.134371066G>C	GRCh38
NC_000005.9:g.133706757G>C , CM000667.1:g.133706757G>C	GRCh37
NC_000005.8:g.133734656G>C	NCBI36
NG_042179.2:g.4982C>G
NG_046936.1:g.4891G>C

Transcript Alleles

HGVS	Amino-acid Change
XM_011543437.1:c.-471C>G	XP_011541739.1:n.-471C>G
XM_011543438.1:c.-292C>G	XP_011541740.1:n.-292C>G
XM_011543439.1:c.-97C>G	XP_011541741.1:n.-97C>G
XM_011543441.1:c.-224+332C>G	XP_011541743.1:n.-224+332C>G
XM_011543444.1:c.-326C>G	XP_011541746.1:n.-326C>G
XM_011543445.1:c.-275C>G	XP_011541747.1:n.-275C>G
XM_011543447.1:c.-186C>G	XP_011541749.1:n.-186C>G
XM_017009544.2:c.-700C>G	XP_016865033.1:n.-700C>G
XM_017009545.2:c.-505C>G	XP_016865034.1:n.-505C>G
XM_024446086.1:c.-90C>G	XP_024301854.1:n.-90C>G
XM_024446093.1:c.227+332C>G	XP_024301861.1:n.227+332C>G
XM_024446096.1:c.-471C>G	XP_024301864.1:n.-471C>G
XM_024446097.1:c.-492C>G	XP_024301865.1:n.-492C>G
XM_024446099.1:c.-439+332C>G	XP_024301867.1:n.-439+332C>G
XM_024446100.1:c.-292C>G	XP_024301868.1:n.-292C>G
XM_024446101.1:c.-82C>G	XP_024301869.1:n.-82C>G
XM_024446103.1:c.-292C>G	XP_024301871.1:n.-292C>G