Canonical Allele Identifier: CA412360203
Gene: CDKL5 HGNC NCBI

Linked Data

dbSNP Id: rs1926270757
gnomAD v3: X-18604191-C-T
gnomAD v4: X-18604191-C-T
MyVariant Identifiers: chrX:g.18622311C>T (hg19) chrX:g.18604191C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18604191C>T , CM000685.2:g.18604191C>T GRCh38
NC_000023.10:g.18622311C>T , CM000685.1:g.18622311C>T GRCh37
NC_000023.9:g.18532232C>T NCBI36
NG_008475.1:g.183587C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000623535.2:c.1267C>T MANE Select ENSP00000485244.1:p.Pro423Ser
ENST00000635828.1:c.1267C>T ENSP00000490170.1:p.Pro423Ser
ENST00000637881.1:c.1267C>T ENSP00000489879.1:p.Pro423Ser
ENST00000674046.1:c.1267C>T ENSP00000501174.1:p.Pro423Ser
ENST00000379989.6:c.1267C>T ENSP00000369325.3:p.Pro423Ser
ENST00000379996.7:c.1267C>T ENSP00000369332.3:p.Pro423Ser
ENST00000463994.4:c.1267C>T ENSP00000485184.1:p.Pro423Ser
ENST00000623535.1:c.1267C>T ENSP00000485244.1:p.Pro423Ser
NM_001037343.1:c.1267C>T NP_001032420.1:p.Pro423Ser
NM_003159.2:c.1267C>T NP_003150.1:p.Pro423Ser
XM_011545569.1:c.1216C>T XP_011543871.1:p.Pro406Ser
XM_011545570.1:c.1135C>T XP_011543872.1:p.Pro379Ser
XR_950484.1:n.1519C>T
NM_001323289.1:c.1267C>T NP_001310218.1:p.Pro423Ser
NM_001323289.2:c.1267C>T MANE Select NP_001310218.1:p.Pro423Ser
NM_001037343.2:c.1267C>T NP_001032420.1:p.Pro423Ser
NM_003159.3:c.1267C>T NP_003150.1:p.Pro423Ser
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