Canonical Allele Identifier: CA412362197
Gene: CDKL5 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.18622712C>A (hg19) chrX:g.18604592C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18604592C>A , CM000685.2:g.18604592C>A GRCh38
NC_000023.10:g.18622712C>A , CM000685.1:g.18622712C>A GRCh37
NC_000023.9:g.18532633C>A NCBI36
NG_008475.1:g.183988C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000623535.2:c.1668C>A MANE Select ENSP00000485244.1:p.Asp556Glu
ENST00000635828.1:c.1668C>A ENSP00000490170.1:p.Asp556Glu
ENST00000674046.1:c.1668C>A ENSP00000501174.1:p.Asp556Glu
ENST00000379989.6:c.1668C>A ENSP00000369325.3:p.Asp556Glu
ENST00000379996.7:c.1668C>A ENSP00000369332.3:p.Asp556Glu
ENST00000463994.4:c.1668C>A ENSP00000485184.1:p.Asp556Glu
ENST00000623535.1:c.1668C>A ENSP00000485244.1:p.Asp556Glu
NM_001037343.1:c.1668C>A NP_001032420.1:p.Asp556Glu
NM_003159.2:c.1668C>A NP_003150.1:p.Asp556Glu
XM_011545569.1:c.1617C>A XP_011543871.1:p.Asp539Glu
XM_011545570.1:c.1536C>A XP_011543872.1:p.Asp512Glu
XR_950484.1:n.1920C>A
NM_001323289.1:c.1668C>A NP_001310218.1:p.Asp556Glu
NM_001323289.2:c.1668C>A MANE Select NP_001310218.1:p.Asp556Glu
NM_001037343.2:c.1668C>A NP_001032420.1:p.Asp556Glu
NM_003159.3:c.1668C>A NP_003150.1:p.Asp556Glu
Search 100 bp 5'
Search 100 bp 3'