Canonical Allele Identifier: CA2675303406

Gene: CDKL3

Linked Data

• gnomAD v4: 5-134371103-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.134371103T>G , CM000667.2:g.134371103T>G	GRCh38
NC_000005.9:g.133706794T>G , CM000667.1:g.133706794T>G	GRCh37
NC_000005.8:g.133734693T>G	NCBI36
NG_042179.2:g.4945A>C
NG_046936.1:g.4928T>G

Transcript Alleles

HGVS	Amino-acid Change
XM_011543441.1:c.-224+295A>C	XP_011541743.1:n.-224+295A>C
XM_017009544.2:c.-737A>C	XP_016865033.1:n.-737A>C
XM_017009545.2:c.-542A>C	XP_016865034.1:n.-542A>C
XM_024446086.1:c.-127A>C	XP_024301854.1:n.-127A>C
XM_024446093.1:c.227+295A>C	XP_024301861.1:n.227+295A>C
XM_024446096.1:c.-508A>C	XP_024301864.1:n.-508A>C
XM_024446097.1:c.-529A>C	XP_024301865.1:n.-529A>C
XM_024446099.1:c.-439+295A>C	XP_024301867.1:n.-439+295A>C
XM_024446100.1:c.-329A>C	XP_024301868.1:n.-329A>C
XM_024446101.1:c.-119A>C	XP_024301869.1:n.-119A>C
XM_024446103.1:c.-329A>C	XP_024301871.1:n.-329A>C