Canonical Allele Identifier: CA515470547

Gene: CDKL5

Linked Data

• gnomAD v4: X-18628382-A-G
• MyVariant Identifiers: chrX:g.18646502A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18628382A>G , CM000685.2:g.18628382A>G	GRCh38
NC_000023.10:g.18646502A>G , CM000685.1:g.18646502A>G	GRCh37
NC_000023.9:g.18556423A>G	NCBI36
NG_008475.1:g.207778A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.2508A>G MANE Select	ENSP00000485244.1:p.Leu836=
ENST00000674046.1:c.2631A>G	ENSP00000501174.1:p.Leu877=
ENST00000379989.6:c.2508A>G	ENSP00000369325.3:p.Leu836=
ENST00000379996.7:c.2508A>G	ENSP00000369332.3:p.Leu836=
ENST00000623535.1:c.2508A>G	ENSP00000485244.1:p.Leu836=
NM_001037343.1:c.2508A>G	NP_001032420.1:p.Leu836=
NM_003159.2:c.2508A>G	NP_003150.1:p.Leu836=
XM_011545569.1:c.2580A>G	XP_011543871.1:p.Leu860=
XM_011545570.1:c.2499A>G	XP_011543872.1:p.Leu833=
XR_950484.1:n.2883A>G
NM_001323289.1:c.2508A>G	NP_001310218.1:p.Leu836=
NM_001323289.2:c.2508A>G MANE Select	NP_001310218.1:p.Leu836=
NM_001037343.2:c.2508A>G	NP_001032420.1:p.Leu836=
NM_003159.3:c.2508A>G	NP_003150.1:p.Leu836=