Canonical Allele Identifier: CA804153564

Gene: CDKL3

Linked Data

• dbSNP Id: rs920908519
• MyVariant Identifiers: chr5:g.133706774C>A (hg19) ; chr5:g.134371083C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.134371083C>A , CM000667.2:g.134371083C>A	GRCh38
NC_000005.9:g.133706774C>A , CM000667.1:g.133706774C>A	GRCh37
NC_000005.8:g.133734673C>A	NCBI36
NG_042179.2:g.4965G>T
NG_046936.1:g.4908C>A

Transcript Alleles

HGVS	Amino-acid Change
XM_011543439.1:c.-114G>T	XP_011541741.1:n.-114G>T
XM_011543441.1:c.-224+315G>T	XP_011541743.1:n.-224+315G>T
XM_011543444.1:c.-343G>T	XP_011541746.1:n.-343G>T
XM_011543445.1:c.-292G>T	XP_011541747.1:n.-292G>T
XM_011543447.1:c.-203G>T	XP_011541749.1:n.-203G>T
XM_017009544.2:c.-717G>T	XP_016865033.1:n.-717G>T
XM_017009545.2:c.-522G>T	XP_016865034.1:n.-522G>T
XM_024446086.1:c.-107G>T	XP_024301854.1:n.-107G>T
XM_024446093.1:c.227+315G>T	XP_024301861.1:n.227+315G>T
XM_024446096.1:c.-488G>T	XP_024301864.1:n.-488G>T
XM_024446097.1:c.-509G>T	XP_024301865.1:n.-509G>T
XM_024446099.1:c.-439+315G>T	XP_024301867.1:n.-439+315G>T
XM_024446100.1:c.-309G>T	XP_024301868.1:n.-309G>T
XM_024446101.1:c.-99G>T	XP_024301869.1:n.-99G>T
XM_024446103.1:c.-309G>T	XP_024301871.1:n.-309G>T