Canonical Allele Identifier: CA563032375

Gene: CDKL3

Linked Data

• dbSNP Id: rs1184763228
• gnomAD v2: 5-133706797-T-C
• gnomAD v3: 5-134371106-T-C
• gnomAD v4: 5-134371106-T-C
• MyVariant Identifiers: chr5:g.133706797T>C (hg19) ; chr5:g.134371106T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.134371106T>C , CM000667.2:g.134371106T>C	GRCh38
NC_000005.9:g.133706797T>C , CM000667.1:g.133706797T>C	GRCh37
NC_000005.8:g.133734696T>C	NCBI36
NG_042179.2:g.4942A>G
NG_046936.1:g.4931T>C

Transcript Alleles

HGVS	Amino-acid Change
XM_011543441.1:c.-224+292A>G	XP_011541743.1:n.-224+292A>G
XM_017009544.2:c.-740A>G	XP_016865033.1:n.-740A>G
XM_017009545.2:c.-545A>G	XP_016865034.1:n.-545A>G
XM_024446086.1:c.-130A>G	XP_024301854.1:n.-130A>G
XM_024446093.1:c.227+292A>G	XP_024301861.1:n.227+292A>G
XM_024446096.1:c.-511A>G	XP_024301864.1:n.-511A>G
XM_024446097.1:c.-532A>G	XP_024301865.1:n.-532A>G
XM_024446099.1:c.-439+292A>G	XP_024301867.1:n.-439+292A>G
XM_024446100.1:c.-332A>G	XP_024301868.1:n.-332A>G
XM_024446101.1:c.-122A>G	XP_024301869.1:n.-122A>G
XM_024446103.1:c.-332A>G	XP_024301871.1:n.-332A>G