This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit here for the production version.
MyVariant.info:
GRCh37
chrX:g.18668681T>G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.18650561T>G , CM000685.2:g.18650561T>G | GRCh38 |
| NC_000023.10:g.18668681T>G , CM000685.1:g.18668681T>G | GRCh37 |
| NC_000023.9:g.18578602T>G | NCBI36 |
| NG_008475.1:g.229957T>G | |
| NG_008659.3:g.31888A>C , LRG_702:g.31888A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379984.4:c.185-3229A>C (RS1) MANE Select | ENSP00000369320.3:n.185-3229A>C | |
| ENST00000673617.1:n.221T>G (CDKL5) | ||
| ENST00000379984.3:c.185-3229A>C (RS1) | ENSP00000369320.3:n.185-3229A>C | |
| ENST00000379989.6:c.2949T>G (CDKL5) | ENSP00000369325.3:p.Thr983= | |
| ENST00000379996.7:c.2949T>G (CDKL5) | ENSP00000369332.3:p.Thr983= | |
| NM_000330.3:c.185-3229A>C , LRG_702t1:c.185-3229A>C (RS1) | NP_000321.1:n.185-3229A>C | |
| NM_001037343.1:c.2949T>G (CDKL5) | NP_001032420.1:p.Thr983= | |
| NM_003159.2:c.2949T>G (CDKL5) | NP_003150.1:p.Thr983= | |
| XM_011545569.1:c.3021T>G (CDKL5) | XP_011543871.1:p.Thr1007= | |
| XM_011545570.1:c.2940T>G (CDKL5) | XP_011543872.1:p.Thr980= | |
| XR_950484.1:n.3324T>G (CDKL5) | ||
| NM_000330.4:c.185-3229A>C (RS1) MANE Select | NP_000321.1:n.185-3229A>C | |
| NM_001037343.2:c.2949T>G (CDKL5) | NP_001032420.1:p.Thr983= | |
| NM_003159.3:c.2949T>G (CDKL5) | NP_003150.1:p.Thr983= |