Canonical Allele Identifier: CA10360530

Gene: CDKL5

Linked Data

• dbSNP Id: rs147144069
• ExAC: X:18638108 A / G
• gnomAD v2: X-18638108-A-G
• gnomAD v3: X-18619988-A-G
• gnomAD v4: X-18619988-A-G
• MyVariant Identifiers: chrX:g.18638108A>G (hg19) ; chrX:g.18619988A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18619988A>G , CM000685.2:g.18619988A>G	GRCh38
NC_000023.10:g.18638108A>G , CM000685.1:g.18638108A>G	GRCh37
NC_000023.9:g.18548029A>G	NCBI36
NG_008475.1:g.199384A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000623535.2:c.2376+22A>G MANE Select	ENSP00000485244.1:n.2376+22A>G
ENST00000635828.1:c.2376+22A>G	ENSP00000490170.1:n.2376+22A>G
ENST00000674046.1:c.2376+22A>G	ENSP00000501174.1:n.2376+22A>G
ENST00000379989.6:c.2376+22A>G	ENSP00000369325.3:n.2376+22A>G
ENST00000379996.7:c.2376+22A>G	ENSP00000369332.3:n.2376+22A>G
ENST00000623535.1:c.2376+22A>G	ENSP00000485244.1:n.2376+22A>G
NM_001037343.1:c.2376+22A>G	NP_001032420.1:n.2376+22A>G
NM_003159.2:c.2376+22A>G	NP_003150.1:n.2376+22A>G
XM_011545569.1:c.2325+22A>G	XP_011543871.1:n.2325+22A>G
XM_011545570.1:c.2244+22A>G	XP_011543872.1:n.2244+22A>G
XR_950484.1:n.2628+22A>G
NM_001323289.1:c.2376+22A>G	NP_001310218.1:n.2376+22A>G
NM_001323289.2:c.2376+22A>G MANE Select	NP_001310218.1:n.2376+22A>G
NM_001037343.2:c.2376+22A>G	NP_001032420.1:n.2376+22A>G
NM_003159.3:c.2376+22A>G	NP_003150.1:n.2376+22A>G