Canonical Allele Identifier: CA2675303434

Gene: CDKL3

Linked Data

• gnomAD v4: 5-134371128-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.134371128C>A , CM000667.2:g.134371128C>A	GRCh38
NC_000005.9:g.133706819C>A , CM000667.1:g.133706819C>A	GRCh37
NC_000005.8:g.133734718C>A	NCBI36
NG_042179.2:g.4920G>T
NG_046936.1:g.4953C>A

Transcript Alleles

HGVS	Amino-acid Change
XM_011543441.1:c.-224+270G>T	XP_011541743.1:n.-224+270G>T
XM_017009544.2:c.-762G>T	XP_016865033.1:n.-762G>T
XM_017009545.2:c.-567G>T	XP_016865034.1:n.-567G>T
XM_024446086.1:c.-152G>T	XP_024301854.1:n.-152G>T
XM_024446093.1:c.227+270G>T	XP_024301861.1:n.227+270G>T
XM_024446096.1:c.-533G>T	XP_024301864.1:n.-533G>T
XM_024446097.1:c.-554G>T	XP_024301865.1:n.-554G>T
XM_024446099.1:c.-439+270G>T	XP_024301867.1:n.-439+270G>T
XM_024446100.1:c.-354G>T	XP_024301868.1:n.-354G>T
XM_024446101.1:c.-144G>T	XP_024301869.1:n.-144G>T
XM_024446103.1:c.-354G>T	XP_024301871.1:n.-354G>T