Revel Score:
ENST00000541745
0.405
ENST00000293404 (MANE Select)
0.405
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44007621G>C , CM000679.2:g.44007621G>C | GRCh38 |
| NC_000017.10:g.42084989G>C , CM000679.1:g.42084989G>C | GRCh37 |
| NC_000017.9:g.39440515G>C | NCBI36 |
| NG_008106.1:g.7958G>C | |
| NG_023338.1:g.1849C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293404.8:c.1299G>C (NAGS) MANE Select | ENSP00000293404.2:p.Glu433Asp | |
| ENST00000293404.7:c.1299G>C (NAGS) | ENSP00000293404.2:p.Glu433Asp | |
| ENST00000589767.1:c.1230G>C (NAGS) | ENSP00000465408.1:p.Glu410Asp | |
| ENST00000592915.1:n.1187G>C (NAGS) | ||
| NM_153006.2:c.1299G>C (NAGS) | NP_694551.1:p.Glu433Asp | |
| XM_011524438.1:c.1268+127G>C (NAGS) | XP_011522740.1:n.1268+127G>C | |
| XM_011524439.1:c.801G>C (NAGS) | XP_011522741.1:p.Glu267Asp | |
| XM_011525035.1:c.-463+15951C>G (PYY) | XP_011523337.1:n.-463+15951C>G | |
| XM_011524439.2:c.801G>C (NAGS) | XP_011522741.1:p.Glu267Asp | |
| NM_153006.3:c.1299G>C (NAGS) MANE Select | NP_694551.1:p.Glu433Asp |