Canonical Allele Identifier: CA515627746
Gene: CDKL5 HGNC NCBI

Linked Data

gnomAD v4: X-18604496-G-A
MyVariant Identifiers: chrX:g.18622616G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18604496G>A , CM000685.2:g.18604496G>A GRCh38
NC_000023.10:g.18622616G>A , CM000685.1:g.18622616G>A GRCh37
NC_000023.9:g.18532537G>A NCBI36
NG_008475.1:g.183892G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000623535.2:c.1572G>A MANE Select ENSP00000485244.1:p.Leu524=
ENST00000635828.1:c.1572G>A ENSP00000490170.1:p.Leu524=
ENST00000674046.1:c.1572G>A ENSP00000501174.1:p.Leu524=
ENST00000379989.6:c.1572G>A ENSP00000369325.3:p.Leu524=
ENST00000379996.7:c.1572G>A ENSP00000369332.3:p.Leu524=
ENST00000463994.4:c.1572G>A ENSP00000485184.1:p.Leu524=
ENST00000623535.1:c.1572G>A ENSP00000485244.1:p.Leu524=
NM_001037343.1:c.1572G>A NP_001032420.1:p.Leu524=
NM_003159.2:c.1572G>A NP_003150.1:p.Leu524=
XM_011545569.1:c.1521G>A XP_011543871.1:p.Leu507=
XM_011545570.1:c.1440G>A XP_011543872.1:p.Leu480=
XR_950484.1:n.1824G>A
NM_001323289.1:c.1572G>A NP_001310218.1:p.Leu524=
NM_001323289.2:c.1572G>A MANE Select NP_001310218.1:p.Leu524=
NM_001037343.2:c.1572G>A NP_001032420.1:p.Leu524=
NM_003159.3:c.1572G>A NP_003150.1:p.Leu524=