Revel Score:
ENST00000541745
0.941
ENST00000293404 (MANE Select)
0.941
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44007772T>G , CM000679.2:g.44007772T>G | GRCh38 |
| NC_000017.10:g.42085140T>G , CM000679.1:g.42085140T>G | GRCh37 |
| NC_000017.9:g.39440666T>G | NCBI36 |
| NG_008106.1:g.8109T>G | |
| NG_023338.1:g.1698A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293404.8:c.1450T>G (NAGS) MANE Select | ENSP00000293404.2:p.Trp484Gly | |
| ENST00000293404.7:c.1450T>G (NAGS) | ENSP00000293404.2:p.Trp484Gly | |
| ENST00000589767.1:c.1381T>G (NAGS) | ENSP00000465408.1:p.Trp461Gly | |
| ENST00000592915.1:n.1338T>G (NAGS) | ||
| NM_153006.2:c.1450T>G (NAGS) | NP_694551.1:p.Trp484Gly | |
| XM_011524438.1:c.1268+278T>G (NAGS) | XP_011522740.1:n.1268+278T>G | |
| XM_011524439.1:c.952T>G (NAGS) | XP_011522741.1:p.Trp318Gly | |
| XM_011525035.1:c.-463+15800A>C (PYY) | XP_011523337.1:n.-463+15800A>C | |
| XM_011524439.2:c.952T>G (NAGS) | XP_011522741.1:p.Trp318Gly | |
| NM_153006.3:c.1450T>G (NAGS) MANE Select | NP_694551.1:p.Trp484Gly |