Canonical Allele Identifier: CA16608793
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 383975
ClinVar RCV Id: RCV000417434
dbSNP Id: rs1057521806
MyVariant Identifiers: chrX:g.18606109T>G (hg19) chrX:g.18587989T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18587989T>G , CM000685.2:g.18587989T>G GRCh38
NC_000023.10:g.18606109T>G , CM000685.1:g.18606109T>G GRCh37
NC_000023.9:g.18516030T>G NCBI36
NG_008475.1:g.167385T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000623535.2:c.590T>G MANE Select ENSP00000485244.1:p.Val197Gly
ENST00000635828.1:c.590T>G ENSP00000490170.1:p.Val197Gly
ENST00000637881.1:c.590T>G ENSP00000489879.1:p.Val197Gly
ENST00000674046.1:c.590T>G ENSP00000501174.1:p.Val197Gly
ENST00000379989.6:c.590T>G ENSP00000369325.3:p.Val197Gly
ENST00000379996.7:c.590T>G ENSP00000369332.3:p.Val197Gly
ENST00000463994.4:c.590T>G ENSP00000485184.1:p.Val197Gly
ENST00000623535.1:c.590T>G ENSP00000485244.1:p.Val197Gly
ENST00000623610.1:n.304T>G
NM_001037343.1:c.590T>G NP_001032420.1:p.Val197Gly
NM_003159.2:c.590T>G NP_003150.1:p.Val197Gly
XM_011545569.1:c.590T>G XP_011543871.1:p.Val197Gly
XM_011545570.1:c.458T>G XP_011543872.1:p.Val153Gly
XR_950484.1:n.842T>G
NM_001323289.1:c.590T>G NP_001310218.1:p.Val197Gly
NM_001323289.2:c.590T>G MANE Select NP_001310218.1:p.Val197Gly
NM_001037343.2:c.590T>G NP_001032420.1:p.Val197Gly
NM_003159.3:c.590T>G NP_003150.1:p.Val197Gly
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