Canonical Allele Identifier: CA412353084

Gene: CDKL5

Linked Data

• gnomAD v4: X-18587971-C-A
• MyVariant Identifiers: chrX:g.18606091C>A (hg19) ; chrX:g.18587971C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18587971C>A , CM000685.2:g.18587971C>A	GRCh38
NC_000023.10:g.18606091C>A , CM000685.1:g.18606091C>A	GRCh37
NC_000023.9:g.18516012C>A	NCBI36
NG_008475.1:g.167367C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000623535.2:c.572C>A MANE Select	ENSP00000485244.1:p.Ser191Tyr
ENST00000635828.1:c.572C>A	ENSP00000490170.1:p.Ser191Tyr
ENST00000637881.1:c.572C>A	ENSP00000489879.1:p.Ser191Tyr
ENST00000674046.1:c.572C>A	ENSP00000501174.1:p.Ser191Tyr
ENST00000379989.6:c.572C>A	ENSP00000369325.3:p.Ser191Tyr
ENST00000379996.7:c.572C>A	ENSP00000369332.3:p.Ser191Tyr
ENST00000463994.4:c.572C>A	ENSP00000485184.1:p.Ser191Tyr
ENST00000623535.1:c.572C>A	ENSP00000485244.1:p.Ser191Tyr
ENST00000623610.1:n.286C>A
NM_001037343.1:c.572C>A	NP_001032420.1:p.Ser191Tyr
NM_003159.2:c.572C>A	NP_003150.1:p.Ser191Tyr
XM_011545569.1:c.572C>A	XP_011543871.1:p.Ser191Tyr
XM_011545570.1:c.440C>A	XP_011543872.1:p.Ser147Tyr
XR_950484.1:n.824C>A
NM_001323289.1:c.572C>A	NP_001310218.1:p.Ser191Tyr
NM_001323289.2:c.572C>A MANE Select	NP_001310218.1:p.Ser191Tyr
NM_001037343.2:c.572C>A	NP_001032420.1:p.Ser191Tyr
NM_003159.3:c.572C>A	NP_003150.1:p.Ser191Tyr