Canonical Allele Identifier: CA563032370

Gene: CDKL3

Linked Data

• dbSNP Id: rs574819950
• gnomAD v2: 5-133706767-C-A
• gnomAD v3: 5-134371076-C-A
• gnomAD v4: 5-134371076-C-A
• MyVariant Identifiers: chr5:g.133706767C>A (hg19) ; chr5:g.134371076C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.134371076C>A , CM000667.2:g.134371076C>A	GRCh38
NC_000005.9:g.133706767C>A , CM000667.1:g.133706767C>A	GRCh37
NC_000005.8:g.133734666C>A	NCBI36
NG_042179.2:g.4972G>T
NG_046936.1:g.4901C>A

Transcript Alleles

HGVS	Amino-acid Change
XM_011543437.1:c.-481G>T	XP_011541739.1:n.-481G>T
XM_011543438.1:c.-302G>T	XP_011541740.1:n.-302G>T
XM_011543439.1:c.-107G>T	XP_011541741.1:n.-107G>T
XM_011543441.1:c.-224+322G>T	XP_011541743.1:n.-224+322G>T
XM_011543444.1:c.-336G>T	XP_011541746.1:n.-336G>T
XM_011543445.1:c.-285G>T	XP_011541747.1:n.-285G>T
XM_011543447.1:c.-196G>T	XP_011541749.1:n.-196G>T
XM_017009544.2:c.-710G>T	XP_016865033.1:n.-710G>T
XM_017009545.2:c.-515G>T	XP_016865034.1:n.-515G>T
XM_024446086.1:c.-100G>T	XP_024301854.1:n.-100G>T
XM_024446093.1:c.227+322G>T	XP_024301861.1:n.227+322G>T
XM_024446096.1:c.-481G>T	XP_024301864.1:n.-481G>T
XM_024446097.1:c.-502G>T	XP_024301865.1:n.-502G>T
XM_024446099.1:c.-439+322G>T	XP_024301867.1:n.-439+322G>T
XM_024446100.1:c.-302G>T	XP_024301868.1:n.-302G>T
XM_024446101.1:c.-92G>T	XP_024301869.1:n.-92G>T
XM_024446103.1:c.-302G>T	XP_024301871.1:n.-302G>T