Canonical Allele Identifier: CA10360328

Gene: CDKL5

Linked Data

• dbSNP Id: rs367713092
• ExAC: X:18621985 G / A
• gnomAD v2: X-18621985-G-A
• gnomAD v4: X-18603865-G-A
• MyVariant Identifiers: chrX:g.18621985G>A (hg19) ; chrX:g.18603865G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18603865G>A , CM000685.2:g.18603865G>A	GRCh38
NC_000023.10:g.18621985G>A , CM000685.1:g.18621985G>A	GRCh37
NC_000023.9:g.18531906G>A	NCBI36
NG_008475.1:g.183261G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000623535.2:c.978-37G>A MANE Select	ENSP00000485244.1:n.978-37G>A
ENST00000635828.1:c.978-37G>A	ENSP00000490170.1:n.978-37G>A
ENST00000637881.1:c.978-37G>A	ENSP00000489879.1:n.978-37G>A
ENST00000674046.1:c.978-37G>A	ENSP00000501174.1:n.978-37G>A
ENST00000379989.6:c.978-37G>A	ENSP00000369325.3:n.978-37G>A
ENST00000379996.7:c.978-37G>A	ENSP00000369332.3:n.978-37G>A
ENST00000463994.4:c.978-37G>A	ENSP00000485184.1:n.978-37G>A
ENST00000623535.1:c.978-37G>A	ENSP00000485244.1:n.978-37G>A
NM_001037343.1:c.978-37G>A	NP_001032420.1:n.978-37G>A
NM_003159.2:c.978-37G>A	NP_003150.1:n.978-37G>A
XM_011545569.1:c.927-37G>A	XP_011543871.1:n.927-37G>A
XM_011545570.1:c.846-37G>A	XP_011543872.1:n.846-37G>A
XR_950484.1:n.1230-37G>A
NM_001323289.1:c.978-37G>A	NP_001310218.1:n.978-37G>A
NM_001323289.2:c.978-37G>A MANE Select	NP_001310218.1:n.978-37G>A
NM_001037343.2:c.978-37G>A	NP_001032420.1:n.978-37G>A
NM_003159.3:c.978-37G>A	NP_003150.1:n.978-37G>A