Canonical Allele Identifier: CA128335119

Gene: CDKL3

Linked Data

• dbSNP Id: rs897658583
• gnomAD v2: 5-133706813-C-T
• gnomAD v3: 5-134371122-C-T
• gnomAD v4: 5-134371122-C-T
• MyVariant Identifiers: chr5:g.133706813C>T (hg19) ; chr5:g.134371122C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.134371122C>T , CM000667.2:g.134371122C>T	GRCh38
NC_000005.9:g.133706813C>T , CM000667.1:g.133706813C>T	GRCh37
NC_000005.8:g.133734712C>T	NCBI36
NG_042179.2:g.4926G>A
NG_046936.1:g.4947C>T

Transcript Alleles

HGVS	Amino-acid Change
XM_011543441.1:c.-224+276G>A	XP_011541743.1:n.-224+276G>A
XM_017009544.2:c.-756G>A	XP_016865033.1:n.-756G>A
XM_017009545.2:c.-561G>A	XP_016865034.1:n.-561G>A
XM_024446086.1:c.-146G>A	XP_024301854.1:n.-146G>A
XM_024446093.1:c.227+276G>A	XP_024301861.1:n.227+276G>A
XM_024446096.1:c.-527G>A	XP_024301864.1:n.-527G>A
XM_024446097.1:c.-548G>A	XP_024301865.1:n.-548G>A
XM_024446099.1:c.-439+276G>A	XP_024301867.1:n.-439+276G>A
XM_024446100.1:c.-348G>A	XP_024301868.1:n.-348G>A
XM_024446101.1:c.-138G>A	XP_024301869.1:n.-138G>A
XM_024446103.1:c.-348G>A	XP_024301871.1:n.-348G>A