Canonical Allele Identifier: CA412358793
Gene: CDKL5 HGNC NCBI

Linked Data

gnomAD v4: X-18603922-C-T
MyVariant Identifiers: chrX:g.18622042C>T (hg19) chrX:g.18603922C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18603922C>T , CM000685.2:g.18603922C>T GRCh38
NC_000023.10:g.18622042C>T , CM000685.1:g.18622042C>T GRCh37
NC_000023.9:g.18531963C>T NCBI36
NG_008475.1:g.183318C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000623535.2:c.998C>T MANE Select ENSP00000485244.1:p.Thr333Ile
ENST00000635828.1:c.998C>T ENSP00000490170.1:p.Thr333Ile
ENST00000637881.1:c.998C>T ENSP00000489879.1:p.Thr333Ile
ENST00000674046.1:c.998C>T ENSP00000501174.1:p.Thr333Ile
ENST00000379989.6:c.998C>T ENSP00000369325.3:p.Thr333Ile
ENST00000379996.7:c.998C>T ENSP00000369332.3:p.Thr333Ile
ENST00000463994.4:c.998C>T ENSP00000485184.1:p.Thr333Ile
ENST00000623535.1:c.998C>T ENSP00000485244.1:p.Thr333Ile
NM_001037343.1:c.998C>T NP_001032420.1:p.Thr333Ile
NM_003159.2:c.998C>T NP_003150.1:p.Thr333Ile
XM_011545569.1:c.947C>T XP_011543871.1:p.Thr316Ile
XM_011545570.1:c.866C>T XP_011543872.1:p.Thr289Ile
XR_950484.1:n.1250C>T
NM_001323289.1:c.998C>T NP_001310218.1:p.Thr333Ile
NM_001323289.2:c.998C>T MANE Select NP_001310218.1:p.Thr333Ile
NM_001037343.2:c.998C>T NP_001032420.1:p.Thr333Ile
NM_003159.3:c.998C>T NP_003150.1:p.Thr333Ile
Search 100 bp 5'
Search 100 bp 3'