Canonical Allele Identifier: CA218965
Gene: RS1 HGNC NCBI
CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 68074
ClinVar RCV Id: RCV000058878
dbSNP Id: rs199469698
MyVariant Identifiers: chrX:g.18662696C>G (hg19) chrX:g.18644576C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18644576C>G , CM000685.2:g.18644576C>G GRCh38
NC_000023.10:g.18662696C>G , CM000685.1:g.18662696C>G GRCh37
NC_000023.9:g.18572617C>G NCBI36
NG_008475.1:g.223972C>G
NG_008659.3:g.37873G>C , LRG_702:g.37873G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000379984.4:c.376G>C (RS1) MANE Select ENSP00000369320.3:p.Asp126His
ENST00000379984.3:c.376G>C (RS1) ENSP00000369320.3:p.Asp126His
ENST00000379989.6:c.2714-1431C>G (CDKL5) ENSP00000369325.3:n.2714-1431C>G
ENST00000379996.7:c.2714-1431C>G (CDKL5) ENSP00000369332.3:n.2714-1431C>G
ENST00000476595.1:n.867G>C (RS1)
NM_000330.3:c.376G>C , LRG_702t1:c.376G>C (RS1) NP_000321.1:p.Asp126His
NM_001037343.1:c.2714-1431C>G (CDKL5) NP_001032420.1:n.2714-1431C>G
NM_003159.2:c.2714-1431C>G (CDKL5) NP_003150.1:n.2714-1431C>G
XM_011545569.1:c.2786-1431C>G (CDKL5) XP_011543871.1:n.2786-1431C>G
XM_011545570.1:c.2705-1431C>G (CDKL5) XP_011543872.1:n.2705-1431C>G
XR_950484.1:n.3089-1431C>G (CDKL5)
NM_000330.4:c.376G>C (RS1) MANE Select NP_000321.1:p.Asp126His
NM_001037343.2:c.2714-1431C>G (CDKL5) NP_001032420.1:n.2714-1431C>G
NM_003159.3:c.2714-1431C>G (CDKL5) NP_003150.1:n.2714-1431C>G
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