Canonical Allele Identifier: CA2675303429

Gene: CDKL3

Linked Data

• gnomAD v4: 5-134371125-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.134371125T>C , CM000667.2:g.134371125T>C	GRCh38
NC_000005.9:g.133706816T>C , CM000667.1:g.133706816T>C	GRCh37
NC_000005.8:g.133734715T>C	NCBI36
NG_042179.2:g.4923A>G
NG_046936.1:g.4950T>C

Transcript Alleles

HGVS	Amino-acid Change
XM_011543441.1:c.-224+273A>G	XP_011541743.1:n.-224+273A>G
XM_017009544.2:c.-759A>G	XP_016865033.1:n.-759A>G
XM_017009545.2:c.-564A>G	XP_016865034.1:n.-564A>G
XM_024446086.1:c.-149A>G	XP_024301854.1:n.-149A>G
XM_024446093.1:c.227+273A>G	XP_024301861.1:n.227+273A>G
XM_024446096.1:c.-530A>G	XP_024301864.1:n.-530A>G
XM_024446097.1:c.-551A>G	XP_024301865.1:n.-551A>G
XM_024446099.1:c.-439+273A>G	XP_024301867.1:n.-439+273A>G
XM_024446100.1:c.-351A>G	XP_024301868.1:n.-351A>G
XM_024446101.1:c.-141A>G	XP_024301869.1:n.-141A>G
XM_024446103.1:c.-351A>G	XP_024301871.1:n.-351A>G