Canonical Allele Identifier: CA446650548

Gene: CDKL3

Linked Data

• MyVariant Identifiers: chr5:g.133706729C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.134371038C>A , CM000667.2:g.134371038C>A	GRCh38
NC_000005.9:g.133706729C>A , CM000667.1:g.133706729C>A	GRCh37
NC_000005.8:g.133734628C>A	NCBI36
NG_042179.2:g.5010G>T
NG_046936.1:g.4863C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000518409.2:n.7G>T
ENST00000520515.5:n.6G>T
ENST00000703312.1:n.6G>T
ENST00000703313.1:c.-69G>T	ENSP00000515258.1:n.-69G>T
ENST00000519312.5:c.-69G>T	ENSP00000427738.1:n.-69G>T
ENST00000520693.5:c.-69G>T	ENSP00000430777.1:n.-69G>T
ENST00000522501.1:n.6G>T
ENST00000523054.5:c.-443G>T	ENSP00000428500.1:n.-443G>T
NM_001300853.1:c.-443G>T	NP_001287782.1:n.-443G>T
XM_011543437.1:c.-443G>T	XP_011541739.1:n.-443G>T
XM_011543438.1:c.-264G>T	XP_011541740.1:n.-264G>T
XM_011543439.1:c.-69G>T	XP_011541741.1:n.-69G>T
XM_011543441.1:c.-224+360G>T	XP_011541743.1:n.-224+360G>T
XM_011543444.1:c.-298G>T	XP_011541746.1:n.-298G>T
XM_011543445.1:c.-247G>T	XP_011541747.1:n.-247G>T
XM_011543447.1:c.-158G>T	XP_011541749.1:n.-158G>T
NM_001349363.1:c.-69G>T	NP_001336292.1:n.-69G>T
NM_001349364.1:c.-298G>T	NP_001336293.1:n.-298G>T
NM_001349365.1:c.-247G>T	NP_001336294.1:n.-247G>T
NM_001349366.1:c.-158G>T	NP_001336295.1:n.-158G>T
XM_017009544.2:c.-672G>T	XP_016865033.1:n.-672G>T
XM_017009545.2:c.-477G>T	XP_016865034.1:n.-477G>T
XM_024446086.1:c.-62G>T	XP_024301854.1:n.-62G>T
XM_024446093.1:c.227+360G>T	XP_024301861.1:n.227+360G>T
XM_024446096.1:c.-443G>T	XP_024301864.1:n.-443G>T
XM_024446097.1:c.-464G>T	XP_024301865.1:n.-464G>T
XM_024446099.1:c.-439+360G>T	XP_024301867.1:n.-439+360G>T
XM_024446100.1:c.-264G>T	XP_024301868.1:n.-264G>T
XM_024446101.1:c.-54G>T	XP_024301869.1:n.-54G>T
XM_024446103.1:c.-264G>T	XP_024301871.1:n.-264G>T
NM_001300853.2:c.-443G>T	NP_001287782.1:n.-443G>T
NM_001349363.2:c.-69G>T	NP_001336292.1:n.-69G>T
NM_001349364.2:c.-298G>T	NP_001336293.1:n.-298G>T
NM_001349365.2:c.-247G>T	NP_001336294.1:n.-247G>T
NM_001349366.2:c.-158G>T	NP_001336295.1:n.-158G>T