Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44006527A>T , CM000679.2:g.44006527A>T | GRCh38 |
| NC_000017.10:g.42083895A>T , CM000679.1:g.42083895A>T | GRCh37 |
| NC_000017.9:g.39439421A>T | NCBI36 |
| NG_008106.1:g.6864A>T | |
| NG_023338.1:g.2943T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293404.8:c.916-2A>T (NAGS) MANE Select | ENSP00000293404.2:n.916-2A>T | |
| ENST00000293404.7:c.916-2A>T (NAGS) | ENSP00000293404.2:n.916-2A>T | |
| ENST00000589767.1:c.823-2A>T (NAGS) | ENSP00000465408.1:n.823-2A>T | |
| ENST00000592915.1:n.191-2A>T (NAGS) | ||
| NM_153006.2:c.916-2A>T (NAGS) | NP_694551.1:n.916-2A>T | |
| XM_011524438.1:c.916-2A>T (NAGS) | XP_011522740.1:n.916-2A>T | |
| XM_011524439.1:c.418-2A>T (NAGS) | XP_011522741.1:n.418-2A>T | |
| XM_011525035.1:c.-463+17045T>A (PYY) | XP_011523337.1:n.-463+17045T>A | |
| XM_011524439.2:c.418-2A>T (NAGS) | XP_011522741.1:n.418-2A>T | |
| NM_153006.3:c.916-2A>T (NAGS) MANE Select | NP_694551.1:n.916-2A>T |