Canonical Allele Identifier: CA2675303374

Gene: CDKL3

Linked Data

• gnomAD v4: 5-134371059-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.134371059A>C , CM000667.2:g.134371059A>C	GRCh38
NC_000005.9:g.133706750A>C , CM000667.1:g.133706750A>C	GRCh37
NC_000005.8:g.133734649A>C	NCBI36
NG_042179.2:g.4989T>G
NG_046936.1:g.4884A>C

Transcript Alleles

HGVS	Amino-acid Change
XM_011543437.1:c.-464T>G	XP_011541739.1:n.-464T>G
XM_011543438.1:c.-285T>G	XP_011541740.1:n.-285T>G
XM_011543439.1:c.-90T>G	XP_011541741.1:n.-90T>G
XM_011543441.1:c.-224+339T>G	XP_011541743.1:n.-224+339T>G
XM_011543444.1:c.-319T>G	XP_011541746.1:n.-319T>G
XM_011543445.1:c.-268T>G	XP_011541747.1:n.-268T>G
XM_011543447.1:c.-179T>G	XP_011541749.1:n.-179T>G
XM_017009544.2:c.-693T>G	XP_016865033.1:n.-693T>G
XM_017009545.2:c.-498T>G	XP_016865034.1:n.-498T>G
XM_024446086.1:c.-83T>G	XP_024301854.1:n.-83T>G
XM_024446093.1:c.227+339T>G	XP_024301861.1:n.227+339T>G
XM_024446096.1:c.-464T>G	XP_024301864.1:n.-464T>G
XM_024446097.1:c.-485T>G	XP_024301865.1:n.-485T>G
XM_024446099.1:c.-439+339T>G	XP_024301867.1:n.-439+339T>G
XM_024446100.1:c.-285T>G	XP_024301868.1:n.-285T>G
XM_024446101.1:c.-75T>G	XP_024301869.1:n.-75T>G
XM_024446103.1:c.-285T>G	XP_024301871.1:n.-285T>G