Canonical Allele Identifier: CA128335110

Gene: CDKL3

Linked Data

• dbSNP Id: rs1041092808
• gnomAD v2: 5-133706769-T-C
• gnomAD v3: 5-134371078-T-C
• gnomAD v4: 5-134371078-T-C
• MyVariant Identifiers: chr5:g.133706769T>C (hg19) ; chr5:g.134371078T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.134371078T>C , CM000667.2:g.134371078T>C	GRCh38
NC_000005.9:g.133706769T>C , CM000667.1:g.133706769T>C	GRCh37
NC_000005.8:g.133734668T>C	NCBI36
NG_042179.2:g.4970A>G
NG_046936.1:g.4903T>C

Transcript Alleles

HGVS	Amino-acid Change
XM_011543437.1:c.-483A>G	XP_011541739.1:n.-483A>G
XM_011543438.1:c.-304A>G	XP_011541740.1:n.-304A>G
XM_011543439.1:c.-109A>G	XP_011541741.1:n.-109A>G
XM_011543441.1:c.-224+320A>G	XP_011541743.1:n.-224+320A>G
XM_011543444.1:c.-338A>G	XP_011541746.1:n.-338A>G
XM_011543445.1:c.-287A>G	XP_011541747.1:n.-287A>G
XM_011543447.1:c.-198A>G	XP_011541749.1:n.-198A>G
XM_017009544.2:c.-712A>G	XP_016865033.1:n.-712A>G
XM_017009545.2:c.-517A>G	XP_016865034.1:n.-517A>G
XM_024446086.1:c.-102A>G	XP_024301854.1:n.-102A>G
XM_024446093.1:c.227+320A>G	XP_024301861.1:n.227+320A>G
XM_024446096.1:c.-483A>G	XP_024301864.1:n.-483A>G
XM_024446097.1:c.-504A>G	XP_024301865.1:n.-504A>G
XM_024446099.1:c.-439+320A>G	XP_024301867.1:n.-439+320A>G
XM_024446100.1:c.-304A>G	XP_024301868.1:n.-304A>G
XM_024446101.1:c.-94A>G	XP_024301869.1:n.-94A>G
XM_024446103.1:c.-304A>G	XP_024301871.1:n.-304A>G