Canonical Allele Identifier: CA171613
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 158179
ClinVar RCV Id: RCV000145520 RCV001090790 RCV001507032
dbSNP Id: rs587783399
MyVariant Identifiers: chrX:g.18593473G>A (hg19) chrX:g.18575353G>A (hg38)
ERepo: CA171613/MONDO:0100039/016 CA171613/MONDO:0100039/034
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18575353G>A , CM000685.2:g.18575353G>A GRCh38
NC_000023.10:g.18593473G>A , CM000685.1:g.18593473G>A GRCh37
NC_000023.9:g.18503394G>A NCBI36
NG_008475.1:g.154749G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000623535.2:c.146-1G>A MANE Select ENSP00000485244.1:n.146-1G>A
ENST00000635828.1:c.146-1G>A ENSP00000490170.1:n.146-1G>A
ENST00000637881.1:c.146-1G>A ENSP00000489879.1:n.146-1G>A
ENST00000674046.1:c.146-1G>A ENSP00000501174.1:n.146-1G>A
ENST00000379989.6:c.146-1G>A ENSP00000369325.3:n.146-1G>A
ENST00000379996.7:c.146-1G>A ENSP00000369332.3:n.146-1G>A
ENST00000463994.4:c.146-1G>A ENSP00000485184.1:n.146-1G>A
ENST00000623364.3:c.146-1G>A ENSP00000485581.1:n.146-1G>A
ENST00000623535.1:c.146-1G>A ENSP00000485244.1:n.146-1G>A
ENST00000624700.3:c.146-1G>A ENSP00000485359.1:n.146-1G>A
NM_001037343.1:c.146-1G>A NP_001032420.1:n.146-1G>A
NM_003159.2:c.146-1G>A NP_003150.1:n.146-1G>A
XM_011545569.1:c.146-1G>A XP_011543871.1:n.146-1G>A
XM_011545570.1:c.14-1G>A XP_011543872.1:n.14-1G>A
XR_950484.1:n.398-1G>A
NM_001323289.1:c.146-1G>A NP_001310218.1:n.146-1G>A
NM_001323289.2:c.146-1G>A MANE Select NP_001310218.1:n.146-1G>A
NM_001037343.2:c.146-1G>A NP_001032420.1:n.146-1G>A
NM_003159.3:c.146-1G>A NP_003150.1:n.146-1G>A
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