Revel Score:
ENST00000380266 (MANE Select)
0.088
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.3147141C>A , CM000682.2:g.3147141C>A | GRCh38 |
| NC_000020.10:g.3127787C>A , CM000682.1:g.3127787C>A | GRCh37 |
| NC_000020.9:g.3075787C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000686392.1:n.4607G>T (FASTKD5) | ||
| ENST00000687419.1:c.1930G>T (FASTKD5) | ENSP00000510780.1:p.Gly644Cys | |
| ENST00000688674.1:c.1930G>T (FASTKD5) | ENSP00000510078.1:p.Gly644Cys | |
| ENST00000692371.1:c.1930G>T (FASTKD5) | ENSP00000510038.1:p.Gly644Cys | |
| ENST00000217173.7:c.-42+12625G>T (UBOX5) MANE Select | ENSP00000217173.2:n.-42+12625G>T | |
| ENST00000380266.4:c.1930G>T (FASTKD5) MANE Select | ENSP00000369618.3:p.Gly644Cys | |
| ENST00000217173.6:c.-42+12625G>T (UBOX5) | ENSP00000217173.2:n.-42+12625G>T | |
| ENST00000348031.6:c.-42+12625G>T (UBOX5) | ENSP00000311726.3:n.-42+12625G>T | |
| ENST00000380266.3:c.1930G>T (FASTKD5) | ENSP00000369618.3:p.Gly644Cys | |
| ENST00000449731.1:c.-42+9543G>T (UBOX5) | ENSP00000404364.1:n.-42+9543G>T | |
| NM_001267584.1:c.-42+12625G>T (UBOX5) | NP_001254513.1:n.-42+12625G>T | |
| NM_014948.3:c.-42+12625G>T (UBOX5) | NP_055763.1:n.-42+12625G>T | |
| NM_021826.4:c.1930G>T (FASTKD5) | NP_068598.1:p.Gly644Cys | |
| NM_199415.2:c.-42+12625G>T (UBOX5) | NP_955447.1:n.-42+12625G>T | |
| NR_038395.1:n.1465-3397C>A (UBOX5-AS1) | ||
| NM_014948.4:c.-42+12625G>T (UBOX5) MANE Select | NP_055763.1:n.-42+12625G>T | |
| NM_021826.5:c.1930G>T (FASTKD5) MANE Select | NP_068598.1:p.Gly644Cys | |
| NM_001267584.2:c.-42+12625G>T (UBOX5) | NP_001254513.1:n.-42+12625G>T | |
| NM_199415.3:c.-42+12625G>T (UBOX5) | NP_955447.1:n.-42+12625G>T |