Canonical Allele Identifier: CA515470576

Gene: CDKL5

Linked Data

• gnomAD v4: X-18628415-G-C
• MyVariant Identifiers: chrX:g.18646535G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18628415G>C , CM000685.2:g.18628415G>C	GRCh38
NC_000023.10:g.18646535G>C , CM000685.1:g.18646535G>C	GRCh37
NC_000023.9:g.18556456G>C	NCBI36
NG_008475.1:g.207811G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.2541G>C MANE Select	ENSP00000485244.1:p.Ser847=
ENST00000674046.1:c.2664G>C	ENSP00000501174.1:p.Ser888=
ENST00000379989.6:c.2541G>C	ENSP00000369325.3:p.Ser847=
ENST00000379996.7:c.2541G>C	ENSP00000369332.3:p.Ser847=
ENST00000623535.1:c.2541G>C	ENSP00000485244.1:p.Ser847=
NM_001037343.1:c.2541G>C	NP_001032420.1:p.Ser847=
NM_003159.2:c.2541G>C	NP_003150.1:p.Ser847=
XM_011545569.1:c.2613G>C	XP_011543871.1:p.Ser871=
XM_011545570.1:c.2532G>C	XP_011543872.1:p.Ser844=
XR_950484.1:n.2916G>C
NM_001323289.1:c.2541G>C	NP_001310218.1:p.Ser847=
NM_001323289.2:c.2541G>C MANE Select	NP_001310218.1:p.Ser847=
NM_001037343.2:c.2541G>C	NP_001032420.1:p.Ser847=
NM_003159.3:c.2541G>C	NP_003150.1:p.Ser847=