Canonical Allele Identifier: CA412373049

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18650415T>A , CM000685.2:g.18650415T>A GRCh38
NC_000023.10:g.18668535T>A , CM000685.1:g.18668535T>A GRCh37
NC_000023.9:g.18578456T>A NCBI36
NG_008475.1:g.229811T>A
NG_008659.3:g.32034A>T , LRG_702:g.32034A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000379984.4:c.185-3083A>T (RS1) MANE Select ENSP00000369320.3:n.185-3083A>T
ENST00000673617.1:n.75T>A (CDKL5)
ENST00000379984.3:c.185-3083A>T (RS1) ENSP00000369320.3:n.185-3083A>T
ENST00000379989.6:c.2803T>A (CDKL5) ENSP00000369325.3:p.Tyr935Asn
ENST00000379996.7:c.2803T>A (CDKL5) ENSP00000369332.3:p.Tyr935Asn
ENST00000476595.1:n.123A>T (RS1)
NM_000330.3:c.185-3083A>T , LRG_702t1:c.185-3083A>T (RS1) NP_000321.1:n.185-3083A>T
NM_001037343.1:c.2803T>A (CDKL5) NP_001032420.1:p.Tyr935Asn
NM_003159.2:c.2803T>A (CDKL5) NP_003150.1:p.Tyr935Asn
XM_011545569.1:c.2875T>A (CDKL5) XP_011543871.1:p.Tyr959Asn
XM_011545570.1:c.2794T>A (CDKL5) XP_011543872.1:p.Tyr932Asn
XR_950484.1:n.3178T>A (CDKL5)
NM_000330.4:c.185-3083A>T (RS1) MANE Select NP_000321.1:n.185-3083A>T
NM_001037343.2:c.2803T>A (CDKL5) NP_001032420.1:p.Tyr935Asn
NM_003159.3:c.2803T>A (CDKL5) NP_003150.1:p.Tyr935Asn