Canonical Allele Identifier: CA327358893
Gene: CDKL5 HGNC NCBI

Linked Data

dbSNP Id: rs757946177
gnomAD v3: X-18507368-A-G
gnomAD v4: X-18507368-A-G
MyVariant Identifiers: chrX:g.18525488A>G (hg19) chrX:g.18507368A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18507368A>G , CM000685.2:g.18507368A>G GRCh38
NC_000023.10:g.18525488A>G , CM000685.1:g.18525488A>G GRCh37
NC_000023.9:g.18435409A>G NCBI36
NG_008475.1:g.86764A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000623535.2:c.64+208A>G MANE Select ENSP00000485244.1:n.64+208A>G
ENST00000635828.1:c.64+208A>G ENSP00000490170.1:n.64+208A>G
ENST00000637881.1:c.64+208A>G ENSP00000489879.1:n.64+208A>G
ENST00000674046.1:c.64+208A>G ENSP00000501174.1:n.64+208A>G
ENST00000379989.6:c.64+208A>G ENSP00000369325.3:n.64+208A>G
ENST00000379996.7:c.64+208A>G ENSP00000369332.3:n.64+208A>G
ENST00000463994.4:c.64+208A>G ENSP00000485184.1:n.64+208A>G
ENST00000623364.3:c.64+208A>G ENSP00000485581.1:n.64+208A>G
ENST00000623535.1:c.64+208A>G ENSP00000485244.1:n.64+208A>G
ENST00000624700.3:c.64+208A>G ENSP00000485359.1:n.64+208A>G
NM_001037343.1:c.64+208A>G NP_001032420.1:n.64+208A>G
NM_003159.2:c.64+208A>G NP_003150.1:n.64+208A>G
XM_011545569.1:c.64+208A>G XP_011543871.1:n.64+208A>G
XM_011545570.1:c.-23+208A>G XP_011543872.1:n.-23+208A>G
XR_950484.1:n.316+208A>G
NM_001323289.1:c.64+208A>G NP_001310218.1:n.64+208A>G
NM_001323289.2:c.64+208A>G MANE Select NP_001310218.1:n.64+208A>G
NM_001037343.2:c.64+208A>G NP_001032420.1:n.64+208A>G
NM_003159.3:c.64+208A>G NP_003150.1:n.64+208A>G
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