Canonical Allele Identifier: CA2675303419

Gene: CDKL3

Linked Data

• gnomAD v4: 5-134371115-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.134371115C>T , CM000667.2:g.134371115C>T	GRCh38
NC_000005.9:g.133706806C>T , CM000667.1:g.133706806C>T	GRCh37
NC_000005.8:g.133734705C>T	NCBI36
NG_042179.2:g.4933G>A
NG_046936.1:g.4940C>T

Transcript Alleles

HGVS	Amino-acid Change
XM_011543441.1:c.-224+283G>A	XP_011541743.1:n.-224+283G>A
XM_017009544.2:c.-749G>A	XP_016865033.1:n.-749G>A
XM_017009545.2:c.-554G>A	XP_016865034.1:n.-554G>A
XM_024446086.1:c.-139G>A	XP_024301854.1:n.-139G>A
XM_024446093.1:c.227+283G>A	XP_024301861.1:n.227+283G>A
XM_024446096.1:c.-520G>A	XP_024301864.1:n.-520G>A
XM_024446097.1:c.-541G>A	XP_024301865.1:n.-541G>A
XM_024446099.1:c.-439+283G>A	XP_024301867.1:n.-439+283G>A
XM_024446100.1:c.-341G>A	XP_024301868.1:n.-341G>A
XM_024446101.1:c.-131G>A	XP_024301869.1:n.-131G>A
XM_024446103.1:c.-341G>A	XP_024301871.1:n.-341G>A