Canonical Allele Identifier: CA128335120

Gene: CDKL3

Linked Data

• dbSNP Id: rs575662116
• gnomAD v3: 5-134371137-A-C
• gnomAD v4: 5-134371137-A-C
• MyVariant Identifiers: chr5:g.133706828A>C (hg19) ; chr5:g.134371137A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.134371137A>C , CM000667.2:g.134371137A>C	GRCh38
NC_000005.9:g.133706828A>C , CM000667.1:g.133706828A>C	GRCh37
NC_000005.8:g.133734727A>C	NCBI36
NG_042179.2:g.4911T>G
NG_046936.1:g.4962A>C

Transcript Alleles

HGVS	Amino-acid Change
XM_011543441.1:c.-224+261T>G	XP_011541743.1:n.-224+261T>G
XM_017009544.2:c.-771T>G	XP_016865033.1:n.-771T>G
XM_017009545.2:c.-576T>G	XP_016865034.1:n.-576T>G
XM_024446086.1:c.-161T>G	XP_024301854.1:n.-161T>G
XM_024446093.1:c.227+261T>G	XP_024301861.1:n.227+261T>G
XM_024446096.1:c.-542T>G	XP_024301864.1:n.-542T>G
XM_024446097.1:c.-563T>G	XP_024301865.1:n.-563T>G
XM_024446099.1:c.-439+261T>G	XP_024301867.1:n.-439+261T>G
XM_024446100.1:c.-363T>G	XP_024301868.1:n.-363T>G
XM_024446101.1:c.-153T>G	XP_024301869.1:n.-153T>G
XM_024446103.1:c.-363T>G	XP_024301871.1:n.-363T>G