Canonical Allele Identifier: CA10360363
Gene: CDKL5 HGNC NCBI

Linked Data

dbSNP Id: rs747428764
ExAC: X:18622249 T / A
MyVariant Identifiers: chrX:g.18622249T>A (hg19) chrX:g.18604129T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18604129T>A , CM000685.2:g.18604129T>A GRCh38
NC_000023.10:g.18622249T>A , CM000685.1:g.18622249T>A GRCh37
NC_000023.9:g.18532170T>A NCBI36
NG_008475.1:g.183525T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000623535.2:c.1205T>A MANE Select ENSP00000485244.1:p.Ile402Lys
ENST00000635828.1:c.1205T>A ENSP00000490170.1:p.Ile402Lys
ENST00000637881.1:c.1205T>A ENSP00000489879.1:p.Ile402Lys
ENST00000674046.1:c.1205T>A ENSP00000501174.1:p.Ile402Lys
ENST00000379989.6:c.1205T>A ENSP00000369325.3:p.Ile402Lys
ENST00000379996.7:c.1205T>A ENSP00000369332.3:p.Ile402Lys
ENST00000463994.4:c.1205T>A ENSP00000485184.1:p.Ile402Lys
ENST00000623535.1:c.1205T>A ENSP00000485244.1:p.Ile402Lys
NM_001037343.1:c.1205T>A NP_001032420.1:p.Ile402Lys
NM_003159.2:c.1205T>A NP_003150.1:p.Ile402Lys
XM_011545569.1:c.1154T>A XP_011543871.1:p.Ile385Lys
XM_011545570.1:c.1073T>A XP_011543872.1:p.Ile358Lys
XR_950484.1:n.1457T>A
NM_001323289.1:c.1205T>A NP_001310218.1:p.Ile402Lys
NM_001323289.2:c.1205T>A MANE Select NP_001310218.1:p.Ile402Lys
NM_001037343.2:c.1205T>A NP_001032420.1:p.Ile402Lys
NM_003159.3:c.1205T>A NP_003150.1:p.Ile402Lys
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