Canonical Allele Identifier: CA2675303414

Gene: CDKL3

Linked Data

• gnomAD v4: 5-134371112-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.134371112A>G , CM000667.2:g.134371112A>G	GRCh38
NC_000005.9:g.133706803A>G , CM000667.1:g.133706803A>G	GRCh37
NC_000005.8:g.133734702A>G	NCBI36
NG_042179.2:g.4936T>C
NG_046936.1:g.4937A>G

Transcript Alleles

HGVS	Amino-acid change
XM_011543441.1:c.-224+286T>C	XP_011541743.1:n.-224+286T>C
XM_017009544.2:c.-746T>C	XP_016865033.1:n.-746T>C
XM_017009545.2:c.-551T>C	XP_016865034.1:n.-551T>C
XM_024446086.1:c.-136T>C	XP_024301854.1:n.-136T>C
XM_024446093.1:c.227+286T>C	XP_024301861.1:n.227+286T>C
XM_024446096.1:c.-517T>C	XP_024301864.1:n.-517T>C
XM_024446097.1:c.-538T>C	XP_024301865.1:n.-538T>C
XM_024446099.1:c.-439+286T>C	XP_024301867.1:n.-439+286T>C
XM_024446100.1:c.-338T>C	XP_024301868.1:n.-338T>C
XM_024446101.1:c.-128T>C	XP_024301869.1:n.-128T>C
XM_024446103.1:c.-338T>C	XP_024301871.1:n.-338T>C