Canonical Allele Identifier: CA412358700
Gene: CDKL5 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.18622029G>A (hg19) chrX:g.18603909G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18603909G>A , CM000685.2:g.18603909G>A GRCh38
NC_000023.10:g.18622029G>A , CM000685.1:g.18622029G>A GRCh37
NC_000023.9:g.18531950G>A NCBI36
NG_008475.1:g.183305G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000623535.2:c.985G>A MANE Select ENSP00000485244.1:p.Ala329Thr
ENST00000635828.1:c.985G>A ENSP00000490170.1:p.Ala329Thr
ENST00000637881.1:c.985G>A ENSP00000489879.1:p.Ala329Thr
ENST00000674046.1:c.985G>A ENSP00000501174.1:p.Ala329Thr
ENST00000379989.6:c.985G>A ENSP00000369325.3:p.Ala329Thr
ENST00000379996.7:c.985G>A ENSP00000369332.3:p.Ala329Thr
ENST00000463994.4:c.985G>A ENSP00000485184.1:p.Ala329Thr
ENST00000623535.1:c.985G>A ENSP00000485244.1:p.Ala329Thr
NM_001037343.1:c.985G>A NP_001032420.1:p.Ala329Thr
NM_003159.2:c.985G>A NP_003150.1:p.Ala329Thr
XM_011545569.1:c.934G>A XP_011543871.1:p.Ala312Thr
XM_011545570.1:c.853G>A XP_011543872.1:p.Ala285Thr
XR_950484.1:n.1237G>A
NM_001323289.1:c.985G>A NP_001310218.1:p.Ala329Thr
NM_001323289.2:c.985G>A MANE Select NP_001310218.1:p.Ala329Thr
NM_001037343.2:c.985G>A NP_001032420.1:p.Ala329Thr
NM_003159.3:c.985G>A NP_003150.1:p.Ala329Thr
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