Canonical Allele Identifier: CA170462
Community Standard Title: NM_001323289.2(CDKL5):c.194G>A (p.Arg65Gln)
Gene: CDKL5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18575402G>A , CM000685.2:g.18575402G>A GRCh38
NC_000023.10:g.18593522G>A , CM000685.1:g.18593522G>A GRCh37
NC_000023.9:g.18503443G>A NCBI36
NG_008475.1:g.154798G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001323289.2:c.194G>A MANE Select NP_001310218.1:p.Arg65Gln
ENST00000623535.2:c.194G>A MANE Select ENSP00000485244.1:p.Arg65Gln
NM_001037343.1:c.194G>A NP_001032420.1:p.Arg65Gln
NM_001037343.2:c.194G>A NP_001032420.1:p.Arg65Gln
NM_001323289.1:c.194G>A NP_001310218.1:p.Arg65Gln
NM_003159.2:c.194G>A NP_003150.1:p.Arg65Gln
NM_003159.3:c.194G>A NP_003150.1:p.Arg65Gln
ENST00000379989.6:c.194G>A ENSP00000369325.3:p.Arg65Gln
ENST00000379996.7:c.194G>A ENSP00000369332.3:p.Arg65Gln
ENST00000463994.4:c.194G>A ENSP00000485184.1:p.Arg65Gln
ENST00000623535.1:c.194G>A ENSP00000485244.1:p.Arg65Gln
ENST00000624700.3:c.194G>A ENSP00000485359.1:p.Arg65Gln
ENST00000635828.1:c.194G>A ENSP00000490170.1:p.Arg65Gln
ENST00000637881.1:c.194G>A ENSP00000489879.1:p.Arg65Gln
ENST00000674046.1:c.194G>A ENSP00000501174.1:p.Arg65Gln
XM_011545569.1:c.194G>A XP_011543871.1:p.Arg65Gln
XM_011545570.1:c.62G>A XP_011543872.1:p.Arg21Gln
XR_950484.1:n.446G>A