Canonical Allele Identifier: CA446650557

Gene: CDKL3

Linked Data

• gnomAD v4: 5-134371042-C-A
• MyVariant Identifiers: chr5:g.133706733C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.134371042C>A , CM000667.2:g.134371042C>A	GRCh38
NC_000005.9:g.133706733C>A , CM000667.1:g.133706733C>A	GRCh37
NC_000005.8:g.133734632C>A	NCBI36
NG_042179.2:g.5006G>T
NG_046936.1:g.4867C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000518409.2:n.3G>T
ENST00000520515.5:n.2G>T
ENST00000703312.1:n.2G>T
ENST00000703313.1:c.-73G>T	ENSP00000515258.1:n.-73G>T
ENST00000519312.5:c.-73G>T	ENSP00000427738.1:n.-73G>T
ENST00000520693.5:c.-73G>T	ENSP00000430777.1:n.-73G>T
ENST00000522501.1:n.2G>T
NM_001300853.1:c.-447G>T	NP_001287782.1:n.-447G>T
XM_011543437.1:c.-447G>T	XP_011541739.1:n.-447G>T
XM_011543438.1:c.-268G>T	XP_011541740.1:n.-268G>T
XM_011543439.1:c.-73G>T	XP_011541741.1:n.-73G>T
XM_011543441.1:c.-224+356G>T	XP_011541743.1:n.-224+356G>T
XM_011543444.1:c.-302G>T	XP_011541746.1:n.-302G>T
XM_011543445.1:c.-251G>T	XP_011541747.1:n.-251G>T
XM_011543447.1:c.-162G>T	XP_011541749.1:n.-162G>T
NM_001349363.1:c.-73G>T	NP_001336292.1:n.-73G>T
NM_001349364.1:c.-302G>T	NP_001336293.1:n.-302G>T
NM_001349365.1:c.-251G>T	NP_001336294.1:n.-251G>T
NM_001349366.1:c.-162G>T	NP_001336295.1:n.-162G>T
XM_017009544.2:c.-676G>T	XP_016865033.1:n.-676G>T
XM_017009545.2:c.-481G>T	XP_016865034.1:n.-481G>T
XM_024446086.1:c.-66G>T	XP_024301854.1:n.-66G>T
XM_024446093.1:c.227+356G>T	XP_024301861.1:n.227+356G>T
XM_024446096.1:c.-447G>T	XP_024301864.1:n.-447G>T
XM_024446097.1:c.-468G>T	XP_024301865.1:n.-468G>T
XM_024446099.1:c.-439+356G>T	XP_024301867.1:n.-439+356G>T
XM_024446100.1:c.-268G>T	XP_024301868.1:n.-268G>T
XM_024446101.1:c.-58G>T	XP_024301869.1:n.-58G>T
XM_024446103.1:c.-268G>T	XP_024301871.1:n.-268G>T
NM_001300853.2:c.-447G>T	NP_001287782.1:n.-447G>T
NM_001349363.2:c.-73G>T	NP_001336292.1:n.-73G>T
NM_001349364.2:c.-302G>T	NP_001336293.1:n.-302G>T
NM_001349365.2:c.-251G>T	NP_001336294.1:n.-251G>T
NM_001349366.2:c.-162G>T	NP_001336295.1:n.-162G>T