Linked Data
dbSNP Id:
rs375437238
ExAC:
17:42083507 G / A
gnomAD v2:
17-42083507-G-A
gnomAD v3:
17-44006139-G-A
gnomAD v4:
17-44006139-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44006139G>A , CM000679.2:g.44006139G>A | GRCh38 |
| NC_000017.10:g.42083507G>A , CM000679.1:g.42083507G>A | GRCh37 |
| NC_000017.9:g.39439033G>A | NCBI36 |
| NG_008106.1:g.6476G>A | |
| NG_023338.1:g.3331C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293404.8:c.817G>A (NAGS) MANE Select | ENSP00000293404.2:p.Asp273Asn | |
| ENST00000293404.7:c.817G>A (NAGS) | ENSP00000293404.2:p.Asp273Asn | |
| ENST00000589767.1:c.724G>A (NAGS) | ENSP00000465408.1:p.Asp242Asn | |
| ENST00000592915.1:n.92G>A (NAGS) | ||
| NM_153006.2:c.817G>A (NAGS) | NP_694551.1:p.Asp273Asn | |
| XM_011524438.1:c.817G>A (NAGS) | XP_011522740.1:p.Asp273Asn | |
| XM_011524439.1:c.319G>A (NAGS) | XP_011522741.1:p.Asp107Asn | |
| XM_011525035.1:c.-463+17433C>T (PYY) | XP_011523337.1:n.-463+17433C>T | |
| XM_011524439.2:c.319G>A (NAGS) | XP_011522741.1:p.Asp107Asn | |
| NM_153006.3:c.817G>A (NAGS) MANE Select | NP_694551.1:p.Asp273Asn |