Canonical Allele Identifier: CA2675303441

Gene: CDKL3

Linked Data

• gnomAD v4: 5-134371136-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.134371136T>G , CM000667.2:g.134371136T>G	GRCh38
NC_000005.9:g.133706827T>G , CM000667.1:g.133706827T>G	GRCh37
NC_000005.8:g.133734726T>G	NCBI36
NG_042179.2:g.4912A>C
NG_046936.1:g.4961T>G

Transcript Alleles

HGVS	Amino-acid Change
XM_011543441.1:c.-224+262A>C	XP_011541743.1:n.-224+262A>C
XM_017009544.2:c.-770A>C	XP_016865033.1:n.-770A>C
XM_017009545.2:c.-575A>C	XP_016865034.1:n.-575A>C
XM_024446086.1:c.-160A>C	XP_024301854.1:n.-160A>C
XM_024446093.1:c.227+262A>C	XP_024301861.1:n.227+262A>C
XM_024446096.1:c.-541A>C	XP_024301864.1:n.-541A>C
XM_024446097.1:c.-562A>C	XP_024301865.1:n.-562A>C
XM_024446099.1:c.-439+262A>C	XP_024301867.1:n.-439+262A>C
XM_024446100.1:c.-362A>C	XP_024301868.1:n.-362A>C
XM_024446101.1:c.-152A>C	XP_024301869.1:n.-152A>C
XM_024446103.1:c.-362A>C	XP_024301871.1:n.-362A>C