Canonical Allele Identifier: CA804153557

Gene: CDKL3

Linked Data

• dbSNP Id: rs1482266327
• gnomAD v3: 5-134371080-T-A
• gnomAD v4: 5-134371080-T-A
• MyVariant Identifiers: chr5:g.133706771T>A (hg19) ; chr5:g.134371080T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.134371080T>A , CM000667.2:g.134371080T>A	GRCh38
NC_000005.9:g.133706771T>A , CM000667.1:g.133706771T>A	GRCh37
NC_000005.8:g.133734670T>A	NCBI36
NG_042179.2:g.4968A>T
NG_046936.1:g.4905T>A

Transcript Alleles

HGVS	Amino-acid Change
XM_011543439.1:c.-111A>T	XP_011541741.1:n.-111A>T
XM_011543441.1:c.-224+318A>T	XP_011541743.1:n.-224+318A>T
XM_011543444.1:c.-340A>T	XP_011541746.1:n.-340A>T
XM_011543445.1:c.-289A>T	XP_011541747.1:n.-289A>T
XM_011543447.1:c.-200A>T	XP_011541749.1:n.-200A>T
XM_017009544.2:c.-714A>T	XP_016865033.1:n.-714A>T
XM_017009545.2:c.-519A>T	XP_016865034.1:n.-519A>T
XM_024446086.1:c.-104A>T	XP_024301854.1:n.-104A>T
XM_024446093.1:c.227+318A>T	XP_024301861.1:n.227+318A>T
XM_024446096.1:c.-485A>T	XP_024301864.1:n.-485A>T
XM_024446097.1:c.-506A>T	XP_024301865.1:n.-506A>T
XM_024446099.1:c.-439+318A>T	XP_024301867.1:n.-439+318A>T
XM_024446100.1:c.-306A>T	XP_024301868.1:n.-306A>T
XM_024446101.1:c.-96A>T	XP_024301869.1:n.-96A>T
XM_024446103.1:c.-306A>T	XP_024301871.1:n.-306A>T