Canonical Allele Identifier: CA128335116

Gene: CDKL3

Linked Data

• dbSNP Id: rs768804211
• MyVariant Identifiers: chr5:g.134371107T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.134371107T>G , CM000667.2:g.134371107T>G	GRCh38
NC_000005.9:g.133706798T>G , CM000667.1:g.133706798T>G	GRCh37
NC_000005.8:g.133734697T>G	NCBI36
NG_042179.2:g.4941A>C
NG_046936.1:g.4932T>G

Transcript Alleles

HGVS	Amino-acid Change
XM_011543441.1:c.-224+291A>C	XP_011541743.1:n.-224+291A>C
XM_017009544.2:c.-741A>C	XP_016865033.1:n.-741A>C
XM_017009545.2:c.-546A>C	XP_016865034.1:n.-546A>C
XM_024446086.1:c.-131A>C	XP_024301854.1:n.-131A>C
XM_024446093.1:c.227+291A>C	XP_024301861.1:n.227+291A>C
XM_024446096.1:c.-512A>C	XP_024301864.1:n.-512A>C
XM_024446097.1:c.-533A>C	XP_024301865.1:n.-533A>C
XM_024446099.1:c.-439+291A>C	XP_024301867.1:n.-439+291A>C
XM_024446100.1:c.-333A>C	XP_024301868.1:n.-333A>C
XM_024446101.1:c.-123A>C	XP_024301869.1:n.-123A>C
XM_024446103.1:c.-333A>C	XP_024301871.1:n.-333A>C