Canonical Allele Identifier: CA515471826

Gene: CDKL5

Linked Data

• dbSNP Id: rs1193830078
• gnomAD v2: X-18646703-G-A
• gnomAD v4: X-18628583-G-A
• MyVariant Identifiers: chrX:g.18646703G>A (hg19) ; chrX:g.18628583G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18628583G>A , CM000685.2:g.18628583G>A	GRCh38
NC_000023.10:g.18646703G>A , CM000685.1:g.18646703G>A	GRCh37
NC_000023.9:g.18556624G>A	NCBI36
NG_008475.1:g.207979G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.2709G>A MANE Select	ENSP00000485244.1:p.Leu903=
ENST00000674046.1:c.2832G>A	ENSP00000501174.1:p.Leu944=
ENST00000379989.6:c.2709G>A	ENSP00000369325.3:p.Leu903=
ENST00000379996.7:c.2709G>A	ENSP00000369332.3:p.Leu903=
ENST00000623535.1:c.2709G>A	ENSP00000485244.1:p.Leu903=
NM_001037343.1:c.2709G>A	NP_001032420.1:p.Leu903=
NM_003159.2:c.2709G>A	NP_003150.1:p.Leu903=
XM_011545569.1:c.2781G>A	XP_011543871.1:p.Leu927=
XM_011545570.1:c.2700G>A	XP_011543872.1:p.Leu900=
XR_950484.1:n.3084G>A
NM_001323289.1:c.2709G>A	NP_001310218.1:p.Leu903=
NM_001323289.2:c.2709G>A MANE Select	NP_001310218.1:p.Leu903=
NM_001037343.2:c.2709G>A	NP_001032420.1:p.Leu903=
NM_003159.3:c.2709G>A	NP_003150.1:p.Leu903=