Canonical Allele Identifier: CA412489564
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 929426
ClinVar RCV Id: RCV001204295 RCV001194616 RCV002281167
dbSNP Id: rs1922605766
MyVariant Identifiers: chrX:g.18525254T>C (hg19) chrX:g.18507134T>C (hg38)
ERepo: CA412489564/MONDO:0100039/016
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18507134T>C , CM000685.2:g.18507134T>C GRCh38
NC_000023.10:g.18525254T>C , CM000685.1:g.18525254T>C GRCh37
NC_000023.9:g.18435175T>C NCBI36
NG_008475.1:g.86530T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000623535.2:c.38T>C MANE Select ENSP00000485244.1:p.Phe13Ser
ENST00000635828.1:c.38T>C ENSP00000490170.1:p.Phe13Ser
ENST00000637881.1:c.38T>C ENSP00000489879.1:p.Phe13Ser
ENST00000674046.1:c.38T>C ENSP00000501174.1:p.Phe13Ser
ENST00000379989.6:c.38T>C ENSP00000369325.3:p.Phe13Ser
ENST00000379996.7:c.38T>C ENSP00000369332.3:p.Phe13Ser
ENST00000463994.4:c.38T>C ENSP00000485184.1:p.Phe13Ser
ENST00000623364.3:c.38T>C ENSP00000485581.1:p.Phe13Ser
ENST00000623535.1:c.38T>C ENSP00000485244.1:p.Phe13Ser
ENST00000624700.3:c.38T>C ENSP00000485359.1:p.Phe13Ser
ENST00000624953.1:c.38T>C ENSP00000485625.1:p.Phe13Ser
NM_001037343.1:c.38T>C NP_001032420.1:p.Phe13Ser
NM_003159.2:c.38T>C NP_003150.1:p.Phe13Ser
XM_011545569.1:c.38T>C XP_011543871.1:p.Phe13Ser
XM_011545570.1:c.-49T>C XP_011543872.1:n.-49T>C
XR_950484.1:n.290T>C
NM_001323289.1:c.38T>C NP_001310218.1:p.Phe13Ser
NM_001323289.2:c.38T>C MANE Select NP_001310218.1:p.Phe13Ser
NM_001037343.2:c.38T>C NP_001032420.1:p.Phe13Ser
NM_003159.3:c.38T>C NP_003150.1:p.Phe13Ser
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