Canonical Allele Identifier: CA412369009

Gene: CDKL5

Linked Data

• MyVariant Identifiers: chrX:g.18646788G>A (hg19) ; chrX:g.18628668G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18628668G>A , CM000685.2:g.18628668G>A	GRCh38
NC_000023.10:g.18646788G>A , CM000685.1:g.18646788G>A	GRCh37
NC_000023.9:g.18556709G>A	NCBI36
NG_008475.1:g.208064G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.2794G>A MANE Select	ENSP00000485244.1:p.Ala932Thr
ENST00000674046.1:c.2917G>A	ENSP00000501174.1:p.Ala973Thr
ENST00000379989.6:c.2713+81G>A	ENSP00000369325.3:n.2713+81G>A
ENST00000379996.7:c.2713+81G>A	ENSP00000369332.3:n.2713+81G>A
ENST00000623535.1:c.2794G>A	ENSP00000485244.1:p.Ala932Thr
NM_001037343.1:c.2713+81G>A	NP_001032420.1:n.2713+81G>A
NM_003159.2:c.2713+81G>A	NP_003150.1:n.2713+81G>A
XM_011545569.1:c.2785+81G>A	XP_011543871.1:n.2785+81G>A
XM_011545570.1:c.2704+81G>A	XP_011543872.1:n.2704+81G>A
XR_950484.1:n.3088+81G>A
NM_001323289.1:c.2794G>A	NP_001310218.1:p.Ala932Thr
NM_001323289.2:c.2794G>A MANE Select	NP_001310218.1:p.Ala932Thr
NM_001037343.2:c.2713+81G>A	NP_001032420.1:n.2713+81G>A
NM_003159.3:c.2713+81G>A	NP_003150.1:n.2713+81G>A