Canonical Allele Identifier: CA10360577
Gene: CDKL5 HGNC NCBI

Linked Data

dbSNP Id: rs756440775
gnomAD v2: X-18646788-G-T
gnomAD v3: X-18628668-G-T
gnomAD v4: X-18628668-G-T

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000623535.2:c.2794G>T MANE Select ENSP00000485244.1:p.Ala932Ser
ENST00000674046.1:c.2917G>T ENSP00000501174.1:p.Ala973Ser
ENST00000379989.6:c.2713+81G>T ENSP00000369325.3:n.2713+81G>T
ENST00000379996.7:c.2713+81G>T ENSP00000369332.3:n.2713+81G>T
ENST00000623535.1:c.2794G>T ENSP00000485244.1:p.Ala932Ser
NM_001037343.1:c.2713+81G>T NP_001032420.1:n.2713+81G>T
NM_003159.2:c.2713+81G>T NP_003150.1:n.2713+81G>T
XM_011545569.1:c.2785+81G>T XP_011543871.1:n.2785+81G>T
XM_011545570.1:c.2704+81G>T XP_011543872.1:n.2704+81G>T
XR_950484.1:n.3088+81G>T
NM_001323289.1:c.2794G>T NP_001310218.1:p.Ala932Ser
NM_001323289.2:c.2794G>T MANE Select NP_001310218.1:p.Ala932Ser
NM_001037343.2:c.2713+81G>T NP_001032420.1:n.2713+81G>T
NM_003159.3:c.2713+81G>T NP_003150.1:n.2713+81G>T