Canonical Allele Identifier: CA412358645
Gene: CDKL5 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.18622023A>C (hg19) chrX:g.18603903A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18603903A>C , CM000685.2:g.18603903A>C GRCh38
NC_000023.10:g.18622023A>C , CM000685.1:g.18622023A>C GRCh37
NC_000023.9:g.18531944A>C NCBI36
NG_008475.1:g.183299A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000623535.2:c.979A>C MANE Select ENSP00000485244.1:p.Asn327His
ENST00000635828.1:c.979A>C ENSP00000490170.1:p.Asn327His
ENST00000637881.1:c.979A>C ENSP00000489879.1:p.Asn327His
ENST00000674046.1:c.979A>C ENSP00000501174.1:p.Asn327His
ENST00000379989.6:c.979A>C ENSP00000369325.3:p.Asn327His
ENST00000379996.7:c.979A>C ENSP00000369332.3:p.Asn327His
ENST00000463994.4:c.979A>C ENSP00000485184.1:p.Asn327His
ENST00000623535.1:c.979A>C ENSP00000485244.1:p.Asn327His
NM_001037343.1:c.979A>C NP_001032420.1:p.Asn327His
NM_003159.2:c.979A>C NP_003150.1:p.Asn327His
XM_011545569.1:c.928A>C XP_011543871.1:p.Asn310His
XM_011545570.1:c.847A>C XP_011543872.1:p.Asn283His
XR_950484.1:n.1231A>C
NM_001323289.1:c.979A>C NP_001310218.1:p.Asn327His
NM_001323289.2:c.979A>C MANE Select NP_001310218.1:p.Asn327His
NM_001037343.2:c.979A>C NP_001032420.1:p.Asn327His
NM_003159.3:c.979A>C NP_003150.1:p.Asn327His
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