Canonical Allele Identifier: CA804153570

Gene: CDKL3

Linked Data

• dbSNP Id: rs1229684016
• gnomAD v4: 5-134371099-T-C
• MyVariant Identifiers: chr5:g.133706790T>C (hg19) ; chr5:g.134371099T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.134371099T>C , CM000667.2:g.134371099T>C	GRCh38
NC_000005.9:g.133706790T>C , CM000667.1:g.133706790T>C	GRCh37
NC_000005.8:g.133734689T>C	NCBI36
NG_042179.2:g.4949A>G
NG_046936.1:g.4924T>C

Transcript Alleles

HGVS	Amino-acid Change
XM_011543441.1:c.-224+299A>G	XP_011541743.1:n.-224+299A>G
XM_017009544.2:c.-733A>G	XP_016865033.1:n.-733A>G
XM_017009545.2:c.-538A>G	XP_016865034.1:n.-538A>G
XM_024446086.1:c.-123A>G	XP_024301854.1:n.-123A>G
XM_024446093.1:c.227+299A>G	XP_024301861.1:n.227+299A>G
XM_024446096.1:c.-504A>G	XP_024301864.1:n.-504A>G
XM_024446097.1:c.-525A>G	XP_024301865.1:n.-525A>G
XM_024446099.1:c.-439+299A>G	XP_024301867.1:n.-439+299A>G
XM_024446100.1:c.-325A>G	XP_024301868.1:n.-325A>G
XM_024446101.1:c.-115A>G	XP_024301869.1:n.-115A>G
XM_024446103.1:c.-325A>G	XP_024301871.1:n.-325A>G