Canonical Allele Identifier: CA10360576

Gene: CDKL5

Linked Data

• dbSNP Id: rs753257705
• ExAC: X:18646786 G / T
• gnomAD v2: X-18646786-G-T
• gnomAD v3: X-18628666-G-T
• gnomAD v4: X-18628666-G-T
• MyVariant Identifiers: chrX:g.18646786G>T (hg19) ; chrX:g.18628666G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18628666G>T , CM000685.2:g.18628666G>T	GRCh38
NC_000023.10:g.18646786G>T , CM000685.1:g.18646786G>T	GRCh37
NC_000023.9:g.18556707G>T	NCBI36
NG_008475.1:g.208062G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.2792G>T MANE Select	ENSP00000485244.1:p.Gly931Val
ENST00000674046.1:c.2915G>T	ENSP00000501174.1:p.Gly972Val
ENST00000379989.6:c.2713+79G>T	ENSP00000369325.3:n.2713+79G>T
ENST00000379996.7:c.2713+79G>T	ENSP00000369332.3:n.2713+79G>T
ENST00000623535.1:c.2792G>T	ENSP00000485244.1:p.Gly931Val
NM_001037343.1:c.2713+79G>T	NP_001032420.1:n.2713+79G>T
NM_003159.2:c.2713+79G>T	NP_003150.1:n.2713+79G>T
XM_011545569.1:c.2785+79G>T	XP_011543871.1:n.2785+79G>T
XM_011545570.1:c.2704+79G>T	XP_011543872.1:n.2704+79G>T
XR_950484.1:n.3088+79G>T
NM_001323289.1:c.2792G>T	NP_001310218.1:p.Gly931Val
NM_001323289.2:c.2792G>T MANE Select	NP_001310218.1:p.Gly931Val
NM_001037343.2:c.2713+79G>T	NP_001032420.1:n.2713+79G>T
NM_003159.3:c.2713+79G>T	NP_003150.1:n.2713+79G>T