UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
dbSNP Id:
rs1308151960
gnomAD v2:
20-43249039-T-C
gnomAD v3:
20-44620398-T-C
gnomAD v4:
20-44620398-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.44620398T>C , CM000682.2:g.44620398T>C | GRCh38 |
| NC_000020.10:g.43249039T>C , CM000682.1:g.43249039T>C | GRCh37 |
| NC_000020.9:g.42682453T>C | NCBI36 |
| NG_007385.1:g.36338A>G , LRG_16:g.36338A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000492931.6:n.1146A>G (ADA) | ||
| ENST00000536076.2:c.826A>G (ADA) | ENSP00000512234.1:p.Ile276Val | |
| ENST00000536532.6:c.*122A>G (ADA) | ENSP00000440946.1:n.*122A>G | |
| ENST00000537820.2:c.907A>G (ADA) | ENSP00000441818.1:p.Ile303Val | |
| ENST00000539235.6:c.*363A>G (ADA) | ENSP00000446464.1:n.*363A>G | |
| ENST00000695889.1:c.454A>G (ADA) | ENSP00000512240.1:p.Ile152Val | |
| ENST00000695890.1:n.5090A>G (ADA) | ||
| ENST00000695891.1:c.519A>G (ADA) | ENSP00000512241.1:n.519A>G | |
| ENST00000695927.1:c.1057A>G (ADA) | ENSP00000512270.1:p.Ile353Val | |
| ENST00000695949.1:c.904A>G (ADA) | ENSP00000512281.1:p.Ile302Val | |
| ENST00000695956.1:c.134A>G (ADA) | ||
| ENST00000695957.1:c.*470A>G (ADA) | ENSP00000512286.1:n.*470A>G | |
| ENST00000695991.1:c.517A>G (ADA) | ENSP00000512314.1:p.Ile173Val | |
| ENST00000695992.1:c.*122A>G (ADA) | ENSP00000512315.1:n.*122A>G | |
| ENST00000695993.1:c.979A>G (ADA) | ENSP00000512316.1:p.Ile327Val | |
| ENST00000695994.1:c.*122A>G (ADA) | ENSP00000512317.1:n.*122A>G | |
| ENST00000695995.1:c.589A>G (ADA) | ENSP00000512318.1:p.Ile197Val | |
| ENST00000695996.1:n.1061A>G (ADA) | ||
| ENST00000696003.1:n.2763A>G (ADA) | ||
| ENST00000696004.1:n.1763A>G (ADA) | ||
| ENST00000696005.1:c.429A>G (ADA) | ||
| ENST00000696006.1:c.*122A>G (ADA) | ENSP00000512325.1:n.*122A>G | |
| ENST00000696007.1:c.906A>G (ADA) | ENSP00000512326.1:n.906A>G | |
| ENST00000696008.1:n.3333A>G (ADA) | ||
| ENST00000696017.1:c.976A>G (ADA) | ENSP00000512333.1:p.Ile326Val | |
| ENST00000696034.1:c.*122A>G (ADA) | ENSP00000512343.1:n.*122A>G | |
| ENST00000696035.1:n.1165A>G (ADA) | ||
| ENST00000696036.1:n.1680A>G (ADA) | ||
| ENST00000696037.1:n.2656A>G (ADA) | ||
| ENST00000696038.1:c.*736A>G (ADA) | ENSP00000512344.1:n.*736A>G | |
| ENST00000696039.1:n.1343A>G (ADA) | ||
| ENST00000696058.1:c.976A>G (ADA) | ENSP00000512361.1:p.Ile326Val | |
| ENST00000696059.1:c.*924A>G (ADA) | ENSP00000512362.1:n.*924A>G | |
| ENST00000696060.1:c.1048A>G (ADA) | ENSP00000512363.1:p.Ile350Val | |
| ENST00000696061.1:c.976A>G (ADA) | ENSP00000512364.1:p.Ile326Val | |
| ENST00000696062.1:c.1042A>G (ADA) | ENSP00000512365.1:p.Ile348Val | |
| ENST00000696063.1:c.1054A>G (ADA) | ENSP00000512366.1:p.Ile352Val | |
| ENST00000696064.1:c.826A>G (ADA) | ENSP00000512367.1:p.Ile276Val | |
| ENST00000696065.1:c.301A>G (ADA) | ENSP00000512368.1:p.Ile101Val | |
| ENST00000696072.1:n.334A>G (ADA) | ||
| ENST00000696073.1:n.1290A>G (ADA) | ||
| ENST00000696074.1:n.530A>G (ADA) | ||
| ENST00000696075.1:c.*949A>G (ADA) | ENSP00000512374.1:n.*949A>G | |
| ENST00000696076.1:c.1048A>G (ADA) | ENSP00000512375.1:p.Ile350Val | |
| ENST00000696077.1:c.973A>G (ADA) | ENSP00000512376.1:p.Ile325Val | |
| ENST00000696078.1:c.976A>G (ADA) | ENSP00000512377.1:p.Ile326Val | |
| ENST00000696079.1:c.976A>G (ADA) | ENSP00000512378.1:p.Ile326Val | |
| ENST00000696080.1:c.979A>G (ADA) | ENSP00000512379.1:p.Ile327Val | |
| ENST00000696081.1:n.1098A>G (ADA) | ||
| ENST00000696082.1:c.1054A>G (ADA) | ENSP00000512380.1:p.Ile352Val | |
| ENST00000696083.1:n.1936A>G (ADA) | ||
| ENST00000696084.1:n.1156A>G (ADA) | ||
| ENST00000696104.1:c.*48A>G (ADA) | ENSP00000512399.1:n.*48A>G | |
| ENST00000372874.9:c.979A>G (ADA) MANE Select | ENSP00000361965.4:p.Ile327Val | |
| ENST00000372874.8:c.979A>G (ADA) | ENSP00000361965.4:p.Ile327Val | |
| ENST00000372887.5:c.152-3535T>C (PKIG) | ENSP00000361978.1:n.152-3535T>C | |
| ENST00000464097.5:n.1345A>G (ADA) | ||
| ENST00000492931.5:n.1139A>G (ADA) | ||
| ENST00000536532.5:c.*122A>G (ADA) | ENSP00000440946.1:n.*122A>G | |
| ENST00000537820.1:c.907A>G (ADA) | ENSP00000441818.1:p.Ile303Val | |
| ENST00000539235.5:c.*363A>G (ADA) | ENSP00000446464.1:n.*363A>G | |
| NM_000022.2:c.979A>G , LRG_16t1:c.979A>G (ADA) | NP_000013.2:p.Ile327Val | |
| XM_005260236.2:c.907A>G (ADA) | XP_005260293.1:p.Ile303Val | |
| XM_011528478.1:c.574A>G (ADA) | XP_011526780.1:p.Ile192Val | |
| XM_011528479.1:c.574A>G (ADA) | XP_011526781.1:p.Ile192Val | |
| XR_244129.1:n.968A>G (ADA) | ||
| NM_000022.3:c.979A>G (ADA) | NP_000013.2:p.Ile327Val | |
| NM_001322050.1:c.574A>G (ADA) | NP_001308979.1:p.Ile192Val | |
| NM_001322051.1:c.907A>G (ADA) | NP_001308980.1:p.Ile303Val | |
| NR_136160.1:n.1065A>G (ADA) | ||
| NM_000022.4:c.979A>G (ADA) MANE Select | NP_000013.2:p.Ile327Val | |
| NM_001322050.2:c.574A>G (ADA) | NP_001308979.1:p.Ile192Val | |
| NM_001322051.2:c.907A>G (ADA) | NP_001308980.1:p.Ile303Val | |
| NR_136160.2:n.1006A>G (ADA) |