Canonical Allele Identifier: CA2675303380

Gene: CDKL3

Linked Data

• gnomAD v4: 5-134371067-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.134371067T>G , CM000667.2:g.134371067T>G	GRCh38
NC_000005.9:g.133706758T>G , CM000667.1:g.133706758T>G	GRCh37
NC_000005.8:g.133734657T>G	NCBI36
NG_042179.2:g.4981A>C
NG_046936.1:g.4892T>G

Transcript Alleles

HGVS	Amino-acid Change
XM_011543437.1:c.-472A>C	XP_011541739.1:n.-472A>C
XM_011543438.1:c.-293A>C	XP_011541740.1:n.-293A>C
XM_011543439.1:c.-98A>C	XP_011541741.1:n.-98A>C
XM_011543441.1:c.-224+331A>C	XP_011541743.1:n.-224+331A>C
XM_011543444.1:c.-327A>C	XP_011541746.1:n.-327A>C
XM_011543445.1:c.-276A>C	XP_011541747.1:n.-276A>C
XM_011543447.1:c.-187A>C	XP_011541749.1:n.-187A>C
XM_017009544.2:c.-701A>C	XP_016865033.1:n.-701A>C
XM_017009545.2:c.-506A>C	XP_016865034.1:n.-506A>C
XM_024446086.1:c.-91A>C	XP_024301854.1:n.-91A>C
XM_024446093.1:c.227+331A>C	XP_024301861.1:n.227+331A>C
XM_024446096.1:c.-472A>C	XP_024301864.1:n.-472A>C
XM_024446097.1:c.-493A>C	XP_024301865.1:n.-493A>C
XM_024446099.1:c.-439+331A>C	XP_024301867.1:n.-439+331A>C
XM_024446100.1:c.-293A>C	XP_024301868.1:n.-293A>C
XM_024446101.1:c.-83A>C	XP_024301869.1:n.-83A>C
XM_024446103.1:c.-293A>C	XP_024301871.1:n.-293A>C