Canonical Allele Identifier: CA412489610
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 918032
ClinVar RCV Id: RCV001175282 RCV001507056 RCV001819879
dbSNP Id: rs786204962
MyVariant Identifiers: chrX:g.18525275G>T (hg19) chrX:g.18507155G>T (hg38)
ERepo: CA412489610/MONDO:0100039/016
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18507155G>T , CM000685.2:g.18507155G>T GRCh38
NC_000023.10:g.18525275G>T , CM000685.1:g.18525275G>T GRCh37
NC_000023.9:g.18435196G>T NCBI36
NG_008475.1:g.86551G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000623535.2:c.59G>T MANE Select ENSP00000485244.1:p.Gly20Val
ENST00000635828.1:c.59G>T ENSP00000490170.1:p.Gly20Val
ENST00000637881.1:c.59G>T ENSP00000489879.1:p.Gly20Val
ENST00000674046.1:c.59G>T ENSP00000501174.1:p.Gly20Val
ENST00000379989.6:c.59G>T ENSP00000369325.3:p.Gly20Val
ENST00000379996.7:c.59G>T ENSP00000369332.3:p.Gly20Val
ENST00000463994.4:c.59G>T ENSP00000485184.1:p.Gly20Val
ENST00000623364.3:c.59G>T ENSP00000485581.1:p.Gly20Val
ENST00000623535.1:c.59G>T ENSP00000485244.1:p.Gly20Val
ENST00000624700.3:c.59G>T ENSP00000485359.1:p.Gly20Val
NM_001037343.1:c.59G>T NP_001032420.1:p.Gly20Val
NM_003159.2:c.59G>T NP_003150.1:p.Gly20Val
XM_011545569.1:c.59G>T XP_011543871.1:p.Gly20Val
XM_011545570.1:c.-28G>T XP_011543872.1:n.-28G>T
XR_950484.1:n.311G>T
NM_001323289.1:c.59G>T NP_001310218.1:p.Gly20Val
NM_001323289.2:c.59G>T MANE Select NP_001310218.1:p.Gly20Val
NM_001037343.2:c.59G>T NP_001032420.1:p.Gly20Val
NM_003159.3:c.59G>T NP_003150.1:p.Gly20Val
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