Canonical Allele Identifier: CA199418
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 156095
ClinVar RCV Id: RCV000144143 RCV000170057
dbSNP Id: rs267608553
MyVariant Identifiers: chrX:g.18622020A>G (hg19) chrX:g.18603900A>G (hg38)
PubMed: PMID:16611748
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18603900A>G , CM000685.2:g.18603900A>G GRCh38
NC_000023.10:g.18622020A>G , CM000685.1:g.18622020A>G GRCh37
NC_000023.9:g.18531941A>G NCBI36
NG_008475.1:g.183296A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000623535.2:c.978-2A>G MANE Select ENSP00000485244.1:n.978-2A>G
ENST00000635828.1:c.978-2A>G ENSP00000490170.1:n.978-2A>G
ENST00000637881.1:c.978-2A>G ENSP00000489879.1:n.978-2A>G
ENST00000674046.1:c.978-2A>G ENSP00000501174.1:n.978-2A>G
ENST00000379989.6:c.978-2A>G ENSP00000369325.3:n.978-2A>G
ENST00000379996.7:c.978-2A>G ENSP00000369332.3:n.978-2A>G
ENST00000463994.4:c.978-2A>G ENSP00000485184.1:n.978-2A>G
ENST00000623535.1:c.978-2A>G ENSP00000485244.1:n.978-2A>G
NM_001037343.1:c.978-2A>G NP_001032420.1:n.978-2A>G
NM_003159.2:c.978-2A>G NP_003150.1:n.978-2A>G
XM_011545569.1:c.927-2A>G XP_011543871.1:n.927-2A>G
XM_011545570.1:c.846-2A>G XP_011543872.1:n.846-2A>G
XR_950484.1:n.1230-2A>G
NM_001323289.1:c.978-2A>G NP_001310218.1:n.978-2A>G
NM_001323289.2:c.978-2A>G MANE Select NP_001310218.1:n.978-2A>G
NM_001037343.2:c.978-2A>G NP_001032420.1:n.978-2A>G
NM_003159.3:c.978-2A>G NP_003150.1:n.978-2A>G
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