Canonical Allele Identifier: CA446650536

Gene: CDKL3

Linked Data

• gnomAD v4: 5-134371034-G-T
• MyVariant Identifiers: chr5:g.133706725G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.134371034G>T , CM000667.2:g.134371034G>T	GRCh38
NC_000005.9:g.133706725G>T , CM000667.1:g.133706725G>T	GRCh37
NC_000005.8:g.133734624G>T	NCBI36
NG_042179.2:g.5014C>A
NG_046936.1:g.4859G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000518409.2:n.11C>A
ENST00000520515.5:n.10C>A
ENST00000703312.1:n.10C>A
ENST00000703313.1:c.-65C>A	ENSP00000515258.1:n.-65C>A
ENST00000703317.1:c.-65C>A	ENSP00000515260.1:n.-65C>A
ENST00000519312.5:c.-65C>A	ENSP00000427738.1:n.-65C>A
ENST00000520693.5:c.-65C>A	ENSP00000430777.1:n.-65C>A
ENST00000522501.1:n.10C>A
ENST00000523054.5:c.-439C>A	ENSP00000428500.1:n.-439C>A
NM_001300853.1:c.-439C>A	NP_001287782.1:n.-439C>A
XM_011543437.1:c.-439C>A	XP_011541739.1:n.-439C>A
XM_011543438.1:c.-260C>A	XP_011541740.1:n.-260C>A
XM_011543439.1:c.-65C>A	XP_011541741.1:n.-65C>A
XM_011543441.1:c.-224+364C>A	XP_011541743.1:n.-224+364C>A
XM_011543444.1:c.-294C>A	XP_011541746.1:n.-294C>A
XM_011543445.1:c.-243C>A	XP_011541747.1:n.-243C>A
XM_011543447.1:c.-154C>A	XP_011541749.1:n.-154C>A
NM_001349363.1:c.-65C>A	NP_001336292.1:n.-65C>A
NM_001349364.1:c.-294C>A	NP_001336293.1:n.-294C>A
NM_001349365.1:c.-243C>A	NP_001336294.1:n.-243C>A
NM_001349366.1:c.-154C>A	NP_001336295.1:n.-154C>A
XM_017009544.2:c.-668C>A	XP_016865033.1:n.-668C>A
XM_017009545.2:c.-473C>A	XP_016865034.1:n.-473C>A
XM_024446086.1:c.-58C>A	XP_024301854.1:n.-58C>A
XM_024446093.1:c.227+364C>A	XP_024301861.1:n.227+364C>A
XM_024446096.1:c.-439C>A	XP_024301864.1:n.-439C>A
XM_024446097.1:c.-460C>A	XP_024301865.1:n.-460C>A
XM_024446099.1:c.-439+364C>A	XP_024301867.1:n.-439+364C>A
XM_024446100.1:c.-260C>A	XP_024301868.1:n.-260C>A
XM_024446101.1:c.-50C>A	XP_024301869.1:n.-50C>A
XM_024446103.1:c.-260C>A	XP_024301871.1:n.-260C>A
NM_001300853.2:c.-439C>A	NP_001287782.1:n.-439C>A
NM_001349363.2:c.-65C>A	NP_001336292.1:n.-65C>A
NM_001349364.2:c.-294C>A	NP_001336293.1:n.-294C>A
NM_001349365.2:c.-243C>A	NP_001336294.1:n.-243C>A
NM_001349366.2:c.-154C>A	NP_001336295.1:n.-154C>A