Canonical Allele Identifier: CA2675303438

Gene: CDKL3

Linked Data

• gnomAD v4: 5-134371133-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.134371133T>G , CM000667.2:g.134371133T>G	GRCh38
NC_000005.9:g.133706824T>G , CM000667.1:g.133706824T>G	GRCh37
NC_000005.8:g.133734723T>G	NCBI36
NG_042179.2:g.4915A>C
NG_046936.1:g.4958T>G

Transcript Alleles

HGVS	Amino-acid Change
XM_011543441.1:c.-224+265A>C	XP_011541743.1:n.-224+265A>C
XM_017009544.2:c.-767A>C	XP_016865033.1:n.-767A>C
XM_017009545.2:c.-572A>C	XP_016865034.1:n.-572A>C
XM_024446086.1:c.-157A>C	XP_024301854.1:n.-157A>C
XM_024446093.1:c.227+265A>C	XP_024301861.1:n.227+265A>C
XM_024446096.1:c.-538A>C	XP_024301864.1:n.-538A>C
XM_024446097.1:c.-559A>C	XP_024301865.1:n.-559A>C
XM_024446099.1:c.-439+265A>C	XP_024301867.1:n.-439+265A>C
XM_024446100.1:c.-359A>C	XP_024301868.1:n.-359A>C
XM_024446101.1:c.-149A>C	XP_024301869.1:n.-149A>C
XM_024446103.1:c.-359A>C	XP_024301871.1:n.-359A>C