Canonical Allele Identifier: CA2675303433

Gene: CDKL3

Linked Data

• gnomAD v4: 5-134371127-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.134371127A>G , CM000667.2:g.134371127A>G	GRCh38
NC_000005.9:g.133706818A>G , CM000667.1:g.133706818A>G	GRCh37
NC_000005.8:g.133734717A>G	NCBI36
NG_042179.2:g.4921T>C
NG_046936.1:g.4952A>G

Transcript Alleles

HGVS	Amino-acid Change
XM_011543441.1:c.-224+271T>C	XP_011541743.1:n.-224+271T>C
XM_017009544.2:c.-761T>C	XP_016865033.1:n.-761T>C
XM_017009545.2:c.-566T>C	XP_016865034.1:n.-566T>C
XM_024446086.1:c.-151T>C	XP_024301854.1:n.-151T>C
XM_024446093.1:c.227+271T>C	XP_024301861.1:n.227+271T>C
XM_024446096.1:c.-532T>C	XP_024301864.1:n.-532T>C
XM_024446097.1:c.-553T>C	XP_024301865.1:n.-553T>C
XM_024446099.1:c.-439+271T>C	XP_024301867.1:n.-439+271T>C
XM_024446100.1:c.-353T>C	XP_024301868.1:n.-353T>C
XM_024446101.1:c.-143T>C	XP_024301869.1:n.-143T>C
XM_024446103.1:c.-353T>C	XP_024301871.1:n.-353T>C