Canonical Allele Identifier: CA128335102

Gene: CDKL3

Linked Data

• dbSNP Id: rs977608266
• gnomAD v3: 5-134371028-T-C
• gnomAD v4: 5-134371028-T-C
• MyVariant Identifiers: chr5:g.133706719T>C (hg19) ; chr5:g.134371028T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.134371028T>C , CM000667.2:g.134371028T>C	GRCh38
NC_000005.9:g.133706719T>C , CM000667.1:g.133706719T>C	GRCh37
NC_000005.8:g.133734618T>C	NCBI36
NG_042179.2:g.5020A>G
NG_046936.1:g.4853T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000518409.2:n.17A>G
ENST00000520515.5:n.16A>G
ENST00000703312.1:n.16A>G
ENST00000703313.1:c.-59A>G	ENSP00000515258.1:n.-59A>G
ENST00000703317.1:c.-59A>G	ENSP00000515260.1:n.-59A>G
ENST00000519312.5:c.-59A>G	ENSP00000427738.1:n.-59A>G
ENST00000520693.5:c.-59A>G	ENSP00000430777.1:n.-59A>G
ENST00000522501.1:n.16A>G
ENST00000523054.5:c.-433A>G	ENSP00000428500.1:n.-433A>G
NM_001300853.1:c.-433A>G	NP_001287782.1:n.-433A>G
XM_011543437.1:c.-433A>G	XP_011541739.1:n.-433A>G
XM_011543438.1:c.-254A>G	XP_011541740.1:n.-254A>G
XM_011543439.1:c.-59A>G	XP_011541741.1:n.-59A>G
XM_011543441.1:c.-224+370A>G	XP_011541743.1:n.-224+370A>G
XM_011543444.1:c.-288A>G	XP_011541746.1:n.-288A>G
XM_011543445.1:c.-237A>G	XP_011541747.1:n.-237A>G
XM_011543447.1:c.-148A>G	XP_011541749.1:n.-148A>G
NM_001349363.1:c.-59A>G	NP_001336292.1:n.-59A>G
NM_001349364.1:c.-288A>G	NP_001336293.1:n.-288A>G
NM_001349365.1:c.-237A>G	NP_001336294.1:n.-237A>G
NM_001349366.1:c.-148A>G	NP_001336295.1:n.-148A>G
XM_017009544.2:c.-662A>G	XP_016865033.1:n.-662A>G
XM_017009545.2:c.-467A>G	XP_016865034.1:n.-467A>G
XM_024446086.1:c.-52A>G	XP_024301854.1:n.-52A>G
XM_024446093.1:c.227+370A>G	XP_024301861.1:n.227+370A>G
XM_024446096.1:c.-433A>G	XP_024301864.1:n.-433A>G
XM_024446097.1:c.-454A>G	XP_024301865.1:n.-454A>G
XM_024446099.1:c.-439+370A>G	XP_024301867.1:n.-439+370A>G
XM_024446100.1:c.-254A>G	XP_024301868.1:n.-254A>G
XM_024446101.1:c.-44A>G	XP_024301869.1:n.-44A>G
XM_024446103.1:c.-254A>G	XP_024301871.1:n.-254A>G
NM_001300853.2:c.-433A>G	NP_001287782.1:n.-433A>G
NM_001349363.2:c.-59A>G	NP_001336292.1:n.-59A>G
NM_001349364.2:c.-288A>G	NP_001336293.1:n.-288A>G
NM_001349365.2:c.-237A>G	NP_001336294.1:n.-237A>G
NM_001349366.2:c.-148A>G	NP_001336295.1:n.-148A>G