Linked Data
dbSNP Id:
rs15783
ExAC:
11:26586801 G / A
gnomAD v2:
11-26586801-G-A
gnomAD v3:
11-26565254-G-A
gnomAD v4:
11-26565254-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.26565254G>A , CM000673.2:g.26565254G>A | GRCh38 |
| NC_000011.9:g.26586801G>A , CM000673.1:g.26586801G>A | GRCh37 |
| NC_000011.8:g.26543377G>A | NCBI36 |
| NG_042856.1:g.381132G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000256737.8:c.1447+5475G>A (ANO3) MANE Select | ENSP00000256737.3:n.1447+5475G>A | |
| ENST00000529533.6:c.686C>T (MUC15) MANE Select | ENSP00000431983.1:p.Thr229Ile | |
| ENST00000648230.1:c.686C>T (MUC15) | ENSP00000498053.1:p.Thr229Ile | |
| ENST00000672621.1:c.1630+5475G>A (ANO3) | ENSP00000500506.1:n.1630+5475G>A | |
| ENST00000256737.7:c.1447+5475G>A (ANO3) | ENSP00000256737.3:n.1447+5475G>A | |
| ENST00000281268.12:c.686C>T (MUC15) | ENSP00000281268.8:p.Thr229Ile | |
| ENST00000436318.6:c.686C>T (MUC15) | ENSP00000416753.2:p.Thr229Ile | |
| ENST00000455601.6:c.605C>T (MUC15) | ENSP00000397339.2:p.Thr202Ile | |
| ENST00000525139.5:c.1399+5475G>A (ANO3) | ENSP00000432576.1:n.1399+5475G>A | |
| ENST00000527569.1:c.686C>T (MUC15) | ENSP00000431945.1:p.Thr229Ile | |
| ENST00000529533.5:c.686C>T (MUC15) | ENSP00000431983.1:p.Thr229Ile | |
| ENST00000531568.1:c.1009+5475G>A (ANO3) | ENSP00000432394.1:n.1009+5475G>A | |
| NM_001135091.1:c.686C>T (MUC15) | NP_001128563.1:p.Thr229Ile | |
| NM_001135092.1:c.686C>T (MUC15) | NP_001128564.1:p.Thr229Ile | |
| NM_001313726.1:c.1630+5475G>A (ANO3) | NP_001300655.1:n.1630+5475G>A | |
| NM_001313727.1:c.1009+5475G>A (ANO3) | NP_001300656.1:n.1009+5475G>A | |
| NM_031418.2:c.1447+5475G>A (ANO3) | NP_113606.2:n.1447+5475G>A | |
| NM_031418.3:c.1447+5475G>A (ANO3) | NP_113606.2:n.1447+5475G>A | |
| NM_145650.3:c.605C>T (MUC15) | NP_663625.2:p.Thr202Ile | |
| XM_011519908.1:c.953C>T (MUC15) | XP_011518210.1:p.Thr318Ile | |
| XM_011519909.1:c.953C>T (MUC15) | XP_011518211.1:p.Thr318Ile | |
| XM_017018118.2:c.1009+5475G>A (ANO3) | XP_016873607.1:n.1009+5475G>A | |
| XM_017018119.2:c.718+5475G>A (ANO3) | XP_016873608.1:n.718+5475G>A | |
| NM_001135091.2:c.686C>T (MUC15) MANE Select | NP_001128563.1:p.Thr229Ile | |
| NM_031418.4:c.1447+5475G>A (ANO3) MANE Select | NP_113606.2:n.1447+5475G>A | |
| NM_001135092.2:c.686C>T (MUC15) | NP_001128564.1:p.Thr229Ile | |
| NM_145650.4:c.605C>T (MUC15) | NP_663625.2:p.Thr202Ile | |
| NM_001313726.2:c.1630+5475G>A (ANO3) | NP_001300655.1:n.1630+5475G>A | |
| NM_001313727.2:c.1009+5475G>A (ANO3) | NP_001300656.1:n.1009+5475G>A |