Canonical Allele Identifier: CA412489510
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2927189
ClinVar RCV Id: RCV003781379
dbSNP Id: rs1922604127
MyVariant Identifiers: chrX:g.18525232A>G (hg19) chrX:g.18507112A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18507112A>G , CM000685.2:g.18507112A>G GRCh38
NC_000023.10:g.18525232A>G , CM000685.1:g.18525232A>G GRCh37
NC_000023.9:g.18435153A>G NCBI36
NG_008475.1:g.86508A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000623535.2:c.16A>G MANE Select ENSP00000485244.1:p.Ile6Val
ENST00000635828.1:c.16A>G ENSP00000490170.1:p.Ile6Val
ENST00000637881.1:c.16A>G ENSP00000489879.1:p.Ile6Val
ENST00000674046.1:c.16A>G ENSP00000501174.1:p.Ile6Val
ENST00000379989.6:c.16A>G ENSP00000369325.3:p.Ile6Val
ENST00000379996.7:c.16A>G ENSP00000369332.3:p.Ile6Val
ENST00000463994.4:c.16A>G ENSP00000485184.1:p.Ile6Val
ENST00000623364.3:c.16A>G ENSP00000485581.1:p.Ile6Val
ENST00000623535.1:c.16A>G ENSP00000485244.1:p.Ile6Val
ENST00000624700.3:c.16A>G ENSP00000485359.1:p.Ile6Val
ENST00000624953.1:c.16A>G ENSP00000485625.1:p.Ile6Val
NM_001037343.1:c.16A>G NP_001032420.1:p.Ile6Val
NM_003159.2:c.16A>G NP_003150.1:p.Ile6Val
XM_011545569.1:c.16A>G XP_011543871.1:p.Ile6Val
XM_011545570.1:c.-71A>G XP_011543872.1:n.-71A>G
XR_950484.1:n.268A>G
NM_001323289.1:c.16A>G NP_001310218.1:p.Ile6Val
NM_001323289.2:c.16A>G MANE Select NP_001310218.1:p.Ile6Val
NM_001037343.2:c.16A>G NP_001032420.1:p.Ile6Val
NM_003159.3:c.16A>G NP_003150.1:p.Ile6Val
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