Linked Data
dbSNP Id:
rs760201540
ExAC:
17:42083949 AGTGG / A
gnomAD v2:
17-42083949-AGTGG-A
gnomAD v3:
17-44006581-AGTGG-A
gnomAD v4:
17-44006581-AGTGG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44006585_44006588del , CM000679.2:g.44006585_44006588del | GRCh38 |
| NC_000017.10:g.42083953_42083956del , CM000679.1:g.42083953_42083956del | GRCh37 |
| NC_000017.9:g.39439479_39439482del | NCBI36 |
| NG_008106.1:g.6922_6925del | |
| NG_023338.1:g.2885_2888del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000293404.8:c.972_975del (NAGS) MANE Select | ENSP00000293404.2:p.Trp324Ter | |
| ENST00000293404.7:c.972_975del (NAGS) | ENSP00000293404.2:p.Trp324Ter | |
| ENST00000589767.1:c.879_882del (NAGS) | ENSP00000465408.1:p.Trp293Ter | |
| ENST00000592915.1:n.247_250del (NAGS) | ||
| NM_153006.2:c.972_975del (NAGS) | NP_694551.1:p.Trp324Ter | |
| XM_011524438.1:c.972_975del (NAGS) | XP_011522740.1:p.Trp324Ter | |
| XM_011524439.1:c.474_477del (NAGS) | XP_011522741.1:p.Trp158Ter | |
| XM_011525035.1:c.-463+16987_-463+16990del (PYY) | XP_011523337.1:n.-463+16987_-463+16990del... | |
| XM_011524439.2:c.474_477del (NAGS) | XP_011522741.1:p.Trp158Ter | |
| NM_153006.3:c.972_975del (NAGS) MANE Select | NP_694551.1:p.Trp324Ter |