Canonical Allele Identifier: CA10360362
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2130676
ClinVar RCV Id: RCV003044649
dbSNP Id: rs772076629
gnomAD v2: X-18622232-T-A
gnomAD v4: X-18604112-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18604112T>A , CM000685.2:g.18604112T>A GRCh38
NC_000023.10:g.18622232T>A , CM000685.1:g.18622232T>A GRCh37
NC_000023.9:g.18532153T>A NCBI36
NG_008475.1:g.183508T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000623535.2:c.1188T>A MANE Select ENSP00000485244.1:p.Asp396Glu
ENST00000635828.1:c.1188T>A ENSP00000490170.1:p.Asp396Glu
ENST00000637881.1:c.1188T>A ENSP00000489879.1:p.Asp396Glu
ENST00000674046.1:c.1188T>A ENSP00000501174.1:p.Asp396Glu
ENST00000379989.6:c.1188T>A ENSP00000369325.3:p.Asp396Glu
ENST00000379996.7:c.1188T>A ENSP00000369332.3:p.Asp396Glu
ENST00000463994.4:c.1188T>A ENSP00000485184.1:p.Asp396Glu
ENST00000623535.1:c.1188T>A ENSP00000485244.1:p.Asp396Glu
NM_001037343.1:c.1188T>A NP_001032420.1:p.Asp396Glu
NM_003159.2:c.1188T>A NP_003150.1:p.Asp396Glu
XM_011545569.1:c.1137T>A XP_011543871.1:p.Asp379Glu
XM_011545570.1:c.1056T>A XP_011543872.1:p.Asp352Glu
XR_950484.1:n.1440T>A
NM_001323289.1:c.1188T>A NP_001310218.1:p.Asp396Glu
NM_001323289.2:c.1188T>A MANE Select NP_001310218.1:p.Asp396Glu
NM_001037343.2:c.1188T>A NP_001032420.1:p.Asp396Glu
NM_003159.3:c.1188T>A NP_003150.1:p.Asp396Glu