Canonical Allele Identifier: CA412359648
Gene: CDKL5 HGNC NCBI

Linked Data

gnomAD v4: X-18604066-C-T
MyVariant Identifiers: chrX:g.18622186C>T (hg19) chrX:g.18604066C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18604066C>T , CM000685.2:g.18604066C>T GRCh38
NC_000023.10:g.18622186C>T , CM000685.1:g.18622186C>T GRCh37
NC_000023.9:g.18532107C>T NCBI36
NG_008475.1:g.183462C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000623535.2:c.1142C>T MANE Select ENSP00000485244.1:p.Thr381Ile
ENST00000635828.1:c.1142C>T ENSP00000490170.1:p.Thr381Ile
ENST00000637881.1:c.1142C>T ENSP00000489879.1:p.Thr381Ile
ENST00000674046.1:c.1142C>T ENSP00000501174.1:p.Thr381Ile
ENST00000379989.6:c.1142C>T ENSP00000369325.3:p.Thr381Ile
ENST00000379996.7:c.1142C>T ENSP00000369332.3:p.Thr381Ile
ENST00000463994.4:c.1142C>T ENSP00000485184.1:p.Thr381Ile
ENST00000623535.1:c.1142C>T ENSP00000485244.1:p.Thr381Ile
NM_001037343.1:c.1142C>T NP_001032420.1:p.Thr381Ile
NM_003159.2:c.1142C>T NP_003150.1:p.Thr381Ile
XM_011545569.1:c.1091C>T XP_011543871.1:p.Thr364Ile
XM_011545570.1:c.1010C>T XP_011543872.1:p.Thr337Ile
XR_950484.1:n.1394C>T
NM_001323289.1:c.1142C>T NP_001310218.1:p.Thr381Ile
NM_001323289.2:c.1142C>T MANE Select NP_001310218.1:p.Thr381Ile
NM_001037343.2:c.1142C>T NP_001032420.1:p.Thr381Ile
NM_003159.3:c.1142C>T NP_003150.1:p.Thr381Ile
Search 100 bp 5'
Search 100 bp 3'