Canonical Allele Identifier: CA412373052

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18650416A>C , CM000685.2:g.18650416A>C GRCh38
NC_000023.10:g.18668536A>C , CM000685.1:g.18668536A>C GRCh37
NC_000023.9:g.18578457A>C NCBI36
NG_008475.1:g.229812A>C
NG_008659.3:g.32033T>G , LRG_702:g.32033T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000379984.4:c.185-3084T>G (RS1) MANE Select ENSP00000369320.3:n.185-3084T>G
ENST00000673617.1:n.76A>C (CDKL5)
ENST00000379984.3:c.185-3084T>G (RS1) ENSP00000369320.3:n.185-3084T>G
ENST00000379989.6:c.2804A>C (CDKL5) ENSP00000369325.3:p.Tyr935Ser
ENST00000379996.7:c.2804A>C (CDKL5) ENSP00000369332.3:p.Tyr935Ser
ENST00000476595.1:n.122T>G (RS1)
NM_000330.3:c.185-3084T>G , LRG_702t1:c.185-3084T>G (RS1) NP_000321.1:n.185-3084T>G
NM_001037343.1:c.2804A>C (CDKL5) NP_001032420.1:p.Tyr935Ser
NM_003159.2:c.2804A>C (CDKL5) NP_003150.1:p.Tyr935Ser
XM_011545569.1:c.2876A>C (CDKL5) XP_011543871.1:p.Tyr959Ser
XM_011545570.1:c.2795A>C (CDKL5) XP_011543872.1:p.Tyr932Ser
XR_950484.1:n.3179A>C (CDKL5)
NM_000330.4:c.185-3084T>G (RS1) MANE Select NP_000321.1:n.185-3084T>G
NM_001037343.2:c.2804A>C (CDKL5) NP_001032420.1:p.Tyr935Ser
NM_003159.3:c.2804A>C (CDKL5) NP_003150.1:p.Tyr935Ser