Canonical Allele Identifier: CA2675303445

Gene: CDKL3

Linked Data

• gnomAD v4: 5-134371140-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.134371140T>G , CM000667.2:g.134371140T>G	GRCh38
NC_000005.9:g.133706831T>G , CM000667.1:g.133706831T>G	GRCh37
NC_000005.8:g.133734730T>G	NCBI36
NG_042179.2:g.4908A>C
NG_046936.1:g.4965T>G

Transcript Alleles

HGVS	Amino-acid Change
XM_011543441.1:c.-224+258A>C	XP_011541743.1:n.-224+258A>C
XM_017009544.2:c.-774A>C	XP_016865033.1:n.-774A>C
XM_017009545.2:c.-579A>C	XP_016865034.1:n.-579A>C
XM_024446086.1:c.-164A>C	XP_024301854.1:n.-164A>C
XM_024446093.1:c.227+258A>C	XP_024301861.1:n.227+258A>C
XM_024446096.1:c.-545A>C	XP_024301864.1:n.-545A>C
XM_024446097.1:c.-566A>C	XP_024301865.1:n.-566A>C
XM_024446099.1:c.-439+258A>C	XP_024301867.1:n.-439+258A>C
XM_024446100.1:c.-366A>C	XP_024301868.1:n.-366A>C
XM_024446101.1:c.-156A>C	XP_024301869.1:n.-156A>C
XM_024446103.1:c.-366A>C	XP_024301871.1:n.-366A>C