Canonical Allele Identifier: CA10360496

Gene: CDKL5

Linked Data

• dbSNP Id: rs763654943
• ExAC: X:18631241 T / C
• gnomAD v2: X-18631241-T-C
• gnomAD v3: X-18613121-T-C
• gnomAD v4: X-18613121-T-C
• MyVariant Identifiers: chrX:g.18631241T>C (hg19) ; chrX:g.18613121T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18613121T>C , CM000685.2:g.18613121T>C	GRCh38
NC_000023.10:g.18631241T>C , CM000685.1:g.18631241T>C	GRCh37
NC_000023.9:g.18541162T>C	NCBI36
NG_008475.1:g.192517T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.2153-31T>C MANE Select	ENSP00000485244.1:n.2153-31T>C
ENST00000635828.1:c.2153-31T>C	ENSP00000490170.1:n.2153-31T>C
ENST00000674046.1:c.2153-31T>C	ENSP00000501174.1:n.2153-31T>C
ENST00000379989.6:c.2153-31T>C	ENSP00000369325.3:n.2153-31T>C
ENST00000379996.7:c.2153-31T>C	ENSP00000369332.3:n.2153-31T>C
ENST00000463994.4:c.2153-31T>C	ENSP00000485184.1:n.2153-31T>C
ENST00000623535.1:c.2153-31T>C	ENSP00000485244.1:n.2153-31T>C
NM_001037343.1:c.2153-31T>C	NP_001032420.1:n.2153-31T>C
NM_003159.2:c.2153-31T>C	NP_003150.1:n.2153-31T>C
XM_011545569.1:c.2102-31T>C	XP_011543871.1:n.2102-31T>C
XM_011545570.1:c.2021-31T>C	XP_011543872.1:n.2021-31T>C
XR_950484.1:n.2405-31T>C
NM_001323289.1:c.2153-31T>C	NP_001310218.1:n.2153-31T>C
NM_001323289.2:c.2153-31T>C MANE Select	NP_001310218.1:n.2153-31T>C
NM_001037343.2:c.2153-31T>C	NP_001032420.1:n.2153-31T>C
NM_003159.3:c.2153-31T>C	NP_003150.1:n.2153-31T>C