Linked Data
dbSNP Id:
rs1226381686
gnomAD v2:
17-42083576-A-G
gnomAD v3:
17-44006208-A-G
gnomAD v4:
17-44006208-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44006208A>G , CM000679.2:g.44006208A>G | GRCh38 |
| NC_000017.10:g.42083576A>G , CM000679.1:g.42083576A>G | GRCh37 |
| NC_000017.9:g.39439102A>G | NCBI36 |
| NG_008106.1:g.6545A>G | |
| NG_023338.1:g.3262T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293404.8:c.886A>G (NAGS) MANE Select | ENSP00000293404.2:p.Thr296Ala | |
| ENST00000293404.7:c.886A>G (NAGS) | ENSP00000293404.2:p.Thr296Ala | |
| ENST00000589767.1:c.793A>G (NAGS) | ENSP00000465408.1:p.Thr265Ala | |
| ENST00000592915.1:n.161A>G (NAGS) | ||
| NM_153006.2:c.886A>G (NAGS) | NP_694551.1:p.Thr296Ala | |
| XM_011524438.1:c.886A>G (NAGS) | XP_011522740.1:p.Thr296Ala | |
| XM_011524439.1:c.388A>G (NAGS) | XP_011522741.1:p.Thr130Ala | |
| XM_011525035.1:c.-463+17364T>C (PYY) | XP_011523337.1:n.-463+17364T>C | |
| XM_011524439.2:c.388A>G (NAGS) | XP_011522741.1:p.Thr130Ala | |
| NM_153006.3:c.886A>G (NAGS) MANE Select | NP_694551.1:p.Thr296Ala |