Canonical Allele Identifier: CA10360390
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 509971
ClinVar RCV Id: RCV000862709 RCV001697851
dbSNP Id: rs369561849
ExAC: X:18622571 G / A
gnomAD v2: X-18622571-G-A
gnomAD v3: X-18604451-G-A
gnomAD v4: X-18604451-G-A
MyVariant Identifiers: chrX:g.18622571G>A (hg19) chrX:g.18604451G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18604451G>A , CM000685.2:g.18604451G>A GRCh38
NC_000023.10:g.18622571G>A , CM000685.1:g.18622571G>A GRCh37
NC_000023.9:g.18532492G>A NCBI36
NG_008475.1:g.183847G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000623535.2:c.1527G>A MANE Select ENSP00000485244.1:p.Ala509=
ENST00000635828.1:c.1527G>A ENSP00000490170.1:p.Ala509=
ENST00000674046.1:c.1527G>A ENSP00000501174.1:p.Ala509=
ENST00000379989.6:c.1527G>A ENSP00000369325.3:p.Ala509=
ENST00000379996.7:c.1527G>A ENSP00000369332.3:p.Ala509=
ENST00000463994.4:c.1527G>A ENSP00000485184.1:p.Ala509=
ENST00000623535.1:c.1527G>A ENSP00000485244.1:p.Ala509=
NM_001037343.1:c.1527G>A NP_001032420.1:p.Ala509=
NM_003159.2:c.1527G>A NP_003150.1:p.Ala509=
XM_011545569.1:c.1476G>A XP_011543871.1:p.Ala492=
XM_011545570.1:c.1395G>A XP_011543872.1:p.Ala465=
XR_950484.1:n.1779G>A
NM_001323289.1:c.1527G>A NP_001310218.1:p.Ala509=
NM_001323289.2:c.1527G>A MANE Select NP_001310218.1:p.Ala509=
NM_001037343.2:c.1527G>A NP_001032420.1:p.Ala509=
NM_003159.3:c.1527G>A NP_003150.1:p.Ala509=
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