Canonical Allele Identifier: CA128335118

Gene: CDKL3

Linked Data

• dbSNP Id: rs553034214
• gnomAD v3: 5-134371118-C-T
• gnomAD v4: 5-134371118-C-T
• MyVariant Identifiers: chr5:g.133706809C>T (hg19) ; chr5:g.134371118C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.134371118C>T , CM000667.2:g.134371118C>T	GRCh38
NC_000005.9:g.133706809C>T , CM000667.1:g.133706809C>T	GRCh37
NC_000005.8:g.133734708C>T	NCBI36
NG_042179.2:g.4930G>A
NG_046936.1:g.4943C>T

Transcript Alleles

HGVS	Amino-acid Change
XM_011543441.1:c.-224+280G>A	XP_011541743.1:n.-224+280G>A
XM_017009544.2:c.-752G>A	XP_016865033.1:n.-752G>A
XM_017009545.2:c.-557G>A	XP_016865034.1:n.-557G>A
XM_024446086.1:c.-142G>A	XP_024301854.1:n.-142G>A
XM_024446093.1:c.227+280G>A	XP_024301861.1:n.227+280G>A
XM_024446096.1:c.-523G>A	XP_024301864.1:n.-523G>A
XM_024446097.1:c.-544G>A	XP_024301865.1:n.-544G>A
XM_024446099.1:c.-439+280G>A	XP_024301867.1:n.-439+280G>A
XM_024446100.1:c.-344G>A	XP_024301868.1:n.-344G>A
XM_024446101.1:c.-134G>A	XP_024301869.1:n.-134G>A
XM_024446103.1:c.-344G>A	XP_024301871.1:n.-344G>A