Canonical Allele Identifier: CA2675303389

Gene: CDKL3

Linked Data

• gnomAD v4: 5-134371082-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.134371082C>T , CM000667.2:g.134371082C>T	GRCh38
NC_000005.9:g.133706773C>T , CM000667.1:g.133706773C>T	GRCh37
NC_000005.8:g.133734672C>T	NCBI36
NG_042179.2:g.4966G>A
NG_046936.1:g.4907C>T

Transcript Alleles

HGVS	Amino-acid Change
XM_011543439.1:c.-113G>A	XP_011541741.1:n.-113G>A
XM_011543441.1:c.-224+316G>A	XP_011541743.1:n.-224+316G>A
XM_011543444.1:c.-342G>A	XP_011541746.1:n.-342G>A
XM_011543445.1:c.-291G>A	XP_011541747.1:n.-291G>A
XM_011543447.1:c.-202G>A	XP_011541749.1:n.-202G>A
XM_017009544.2:c.-716G>A	XP_016865033.1:n.-716G>A
XM_017009545.2:c.-521G>A	XP_016865034.1:n.-521G>A
XM_024446086.1:c.-106G>A	XP_024301854.1:n.-106G>A
XM_024446093.1:c.227+316G>A	XP_024301861.1:n.227+316G>A
XM_024446096.1:c.-487G>A	XP_024301864.1:n.-487G>A
XM_024446097.1:c.-508G>A	XP_024301865.1:n.-508G>A
XM_024446099.1:c.-439+316G>A	XP_024301867.1:n.-439+316G>A
XM_024446100.1:c.-308G>A	XP_024301868.1:n.-308G>A
XM_024446101.1:c.-98G>A	XP_024301869.1:n.-98G>A
XM_024446103.1:c.-308G>A	XP_024301871.1:n.-308G>A