Canonical Allele Identifier: CA804153601

Gene: CDKL3

Linked Data

• dbSNP Id: rs1349381394
• gnomAD v3: 5-134371117-G-T
• gnomAD v4: 5-134371117-G-T
• MyVariant Identifiers: chr5:g.133706808G>T (hg19) ; chr5:g.134371117G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.134371117G>T , CM000667.2:g.134371117G>T	GRCh38
NC_000005.9:g.133706808G>T , CM000667.1:g.133706808G>T	GRCh37
NC_000005.8:g.133734707G>T	NCBI36
NG_042179.2:g.4931C>A
NG_046936.1:g.4942G>T

Transcript Alleles

HGVS	Amino-acid Change
XM_011543441.1:c.-224+281C>A	XP_011541743.1:n.-224+281C>A
XM_017009544.2:c.-751C>A	XP_016865033.1:n.-751C>A
XM_017009545.2:c.-556C>A	XP_016865034.1:n.-556C>A
XM_024446086.1:c.-141C>A	XP_024301854.1:n.-141C>A
XM_024446093.1:c.227+281C>A	XP_024301861.1:n.227+281C>A
XM_024446096.1:c.-522C>A	XP_024301864.1:n.-522C>A
XM_024446097.1:c.-543C>A	XP_024301865.1:n.-543C>A
XM_024446099.1:c.-439+281C>A	XP_024301867.1:n.-439+281C>A
XM_024446100.1:c.-343C>A	XP_024301868.1:n.-343C>A
XM_024446101.1:c.-133C>A	XP_024301869.1:n.-133C>A
XM_024446103.1:c.-343C>A	XP_024301871.1:n.-343C>A