Linked Data
dbSNP Id:
rs751190869
ExAC:
17:42084002 A / T
gnomAD v2:
17-42084002-A-T
gnomAD v4:
17-44006634-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44006634A>T , CM000679.2:g.44006634A>T | GRCh38 |
| NC_000017.10:g.42084002A>T , CM000679.1:g.42084002A>T | GRCh37 |
| NC_000017.9:g.39439528A>T | NCBI36 |
| NG_008106.1:g.6971A>T | |
| NG_023338.1:g.2836T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293404.8:c.1021A>T (NAGS) MANE Select | ENSP00000293404.2:p.Ser341Cys | |
| ENST00000293404.7:c.1021A>T (NAGS) | ENSP00000293404.2:p.Ser341Cys | |
| ENST00000589767.1:c.928A>T (NAGS) | ENSP00000465408.1:p.Ser310Cys | |
| ENST00000592915.1:n.296A>T (NAGS) | ||
| NM_153006.2:c.1021A>T (NAGS) | NP_694551.1:p.Ser341Cys | |
| XM_011524438.1:c.1021A>T (NAGS) | XP_011522740.1:p.Ser341Cys | |
| XM_011524439.1:c.523A>T (NAGS) | XP_011522741.1:p.Ser175Cys | |
| XM_011525035.1:c.-463+16938T>A (PYY) | XP_011523337.1:n.-463+16938T>A | |
| XM_011524439.2:c.523A>T (NAGS) | XP_011522741.1:p.Ser175Cys | |
| NM_153006.3:c.1021A>T (NAGS) MANE Select | NP_694551.1:p.Ser341Cys |