Revel Score:
ENST00000541745
0.912
ENST00000293404 (MANE Select)
0.912
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44006101C>T , CM000679.2:g.44006101C>T | GRCh38 |
| NC_000017.10:g.42083469C>T , CM000679.1:g.42083469C>T | GRCh37 |
| NC_000017.9:g.39438995C>T | NCBI36 |
| NG_008106.1:g.6438C>T | |
| NG_023338.1:g.3369G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293404.8:c.779C>T (NAGS) MANE Select | ENSP00000293404.2:p.Pro260Leu | |
| ENST00000293404.7:c.779C>T (NAGS) | ENSP00000293404.2:p.Pro260Leu | |
| ENST00000589767.1:c.686C>T (NAGS) | ENSP00000465408.1:p.Pro229Leu | |
| ENST00000592915.1:n.54C>T (NAGS) | ||
| NM_153006.2:c.779C>T (NAGS) | NP_694551.1:p.Pro260Leu | |
| XM_011524438.1:c.779C>T (NAGS) | XP_011522740.1:p.Pro260Leu | |
| XM_011524439.1:c.281C>T (NAGS) | XP_011522741.1:p.Pro94Leu | |
| XM_011525035.1:c.-463+17471G>A (PYY) | XP_011523337.1:n.-463+17471G>A | |
| XM_011524439.2:c.281C>T (NAGS) | XP_011522741.1:p.Pro94Leu | |
| NM_153006.3:c.779C>T (NAGS) MANE Select | NP_694551.1:p.Pro260Leu |