Canonical Allele Identifier: CA412489560
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1338985
ClinVar RCV Id: RCV001823439
dbSNP Id: rs2147092100
MyVariant Identifiers: chrX:g.18525253T>A (hg19) chrX:g.18507133T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18507133T>A , CM000685.2:g.18507133T>A GRCh38
NC_000023.10:g.18525253T>A , CM000685.1:g.18525253T>A GRCh37
NC_000023.9:g.18435174T>A NCBI36
NG_008475.1:g.86529T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000623535.2:c.37T>A MANE Select ENSP00000485244.1:p.Phe13Ile
ENST00000635828.1:c.37T>A ENSP00000490170.1:p.Phe13Ile
ENST00000637881.1:c.37T>A ENSP00000489879.1:p.Phe13Ile
ENST00000674046.1:c.37T>A ENSP00000501174.1:p.Phe13Ile
ENST00000379989.6:c.37T>A ENSP00000369325.3:p.Phe13Ile
ENST00000379996.7:c.37T>A ENSP00000369332.3:p.Phe13Ile
ENST00000463994.4:c.37T>A ENSP00000485184.1:p.Phe13Ile
ENST00000623364.3:c.37T>A ENSP00000485581.1:p.Phe13Ile
ENST00000623535.1:c.37T>A ENSP00000485244.1:p.Phe13Ile
ENST00000624700.3:c.37T>A ENSP00000485359.1:p.Phe13Ile
ENST00000624953.1:c.37T>A ENSP00000485625.1:p.Phe13Ile
NM_001037343.1:c.37T>A NP_001032420.1:p.Phe13Ile
NM_003159.2:c.37T>A NP_003150.1:p.Phe13Ile
XM_011545569.1:c.37T>A XP_011543871.1:p.Phe13Ile
XM_011545570.1:c.-50T>A XP_011543872.1:n.-50T>A
XR_950484.1:n.289T>A
NM_001323289.1:c.37T>A NP_001310218.1:p.Phe13Ile
NM_001323289.2:c.37T>A MANE Select NP_001310218.1:p.Phe13Ile
NM_001037343.2:c.37T>A NP_001032420.1:p.Phe13Ile
NM_003159.3:c.37T>A NP_003150.1:p.Phe13Ile
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