Canonical Allele Identifier: CA10360527
Gene: CDKL5 HGNC NCBI

Linked Data

dbSNP Id: rs761091421
gnomAD v2: X-18638057-A-T
gnomAD v3: X-18619937-A-T
gnomAD v4: X-18619937-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18619937A>T , CM000685.2:g.18619937A>T GRCh38
NC_000023.10:g.18638057A>T , CM000685.1:g.18638057A>T GRCh37
NC_000023.9:g.18547978A>T NCBI36
NG_008475.1:g.199333A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000623535.2:c.2347A>T MANE Select ENSP00000485244.1:p.Met783Leu
ENST00000635828.1:c.2347A>T ENSP00000490170.1:p.Met783Leu
ENST00000674046.1:c.2347A>T ENSP00000501174.1:p.Met783Leu
ENST00000379989.6:c.2347A>T ENSP00000369325.3:p.Met783Leu
ENST00000379996.7:c.2347A>T ENSP00000369332.3:p.Met783Leu
ENST00000463994.4:c.2347A>T ENSP00000485184.1:p.Met783Leu
ENST00000623535.1:c.2347A>T ENSP00000485244.1:p.Met783Leu
NM_001037343.1:c.2347A>T NP_001032420.1:p.Met783Leu
NM_003159.2:c.2347A>T NP_003150.1:p.Met783Leu
XM_011545569.1:c.2296A>T XP_011543871.1:p.Met766Leu
XM_011545570.1:c.2215A>T XP_011543872.1:p.Met739Leu
XR_950484.1:n.2599A>T
NM_001323289.1:c.2347A>T NP_001310218.1:p.Met783Leu
NM_001323289.2:c.2347A>T MANE Select NP_001310218.1:p.Met783Leu
NM_001037343.2:c.2347A>T NP_001032420.1:p.Met783Leu
NM_003159.3:c.2347A>T NP_003150.1:p.Met783Leu