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
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.44620395T>C , CM000682.2:g.44620395T>C | GRCh38 |
| NC_000020.10:g.43249036T>C , CM000682.1:g.43249036T>C | GRCh37 |
| NC_000020.9:g.42682450T>C | NCBI36 |
| NG_007385.1:g.36341A>G , LRG_16:g.36341A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000492931.6:n.1149A>G (ADA) | ||
| ENST00000536076.2:c.829A>G (ADA) | ENSP00000512234.1:p.Asn277Asp | |
| ENST00000536532.6:c.*125A>G (ADA) | ENSP00000440946.1:n.*125A>G | |
| ENST00000537820.2:c.910A>G (ADA) | ENSP00000441818.1:p.Asn304Asp | |
| ENST00000539235.6:c.*366A>G (ADA) | ENSP00000446464.1:n.*366A>G | |
| ENST00000695889.1:c.457A>G (ADA) | ENSP00000512240.1:p.Asn153Asp | |
| ENST00000695890.1:n.5093A>G (ADA) | ||
| ENST00000695891.1:c.522A>G (ADA) | ENSP00000512241.1:n.522A>G | |
| ENST00000695927.1:c.1060A>G (ADA) | ENSP00000512270.1:p.Asn354Asp | |
| ENST00000695949.1:c.907A>G (ADA) | ENSP00000512281.1:p.Asn303Asp | |
| ENST00000695956.1:c.137A>G (ADA) | ||
| ENST00000695957.1:c.*473A>G (ADA) | ENSP00000512286.1:n.*473A>G | |
| ENST00000695991.1:c.520A>G (ADA) | ENSP00000512314.1:p.Asn174Asp | |
| ENST00000695992.1:c.*125A>G (ADA) | ENSP00000512315.1:n.*125A>G | |
| ENST00000695993.1:c.982A>G (ADA) | ENSP00000512316.1:p.Asn328Asp | |
| ENST00000695994.1:c.*125A>G (ADA) | ENSP00000512317.1:n.*125A>G | |
| ENST00000695995.1:c.592A>G (ADA) | ENSP00000512318.1:p.Asn198Asp | |
| ENST00000695996.1:n.1064A>G (ADA) | ||
| ENST00000696003.1:n.2766A>G (ADA) | ||
| ENST00000696004.1:n.1766A>G (ADA) | ||
| ENST00000696005.1:c.432A>G (ADA) | ||
| ENST00000696006.1:c.*125A>G (ADA) | ENSP00000512325.1:n.*125A>G | |
| ENST00000696007.1:c.909A>G (ADA) | ENSP00000512326.1:n.909A>G | |
| ENST00000696008.1:n.3336A>G (ADA) | ||
| ENST00000696017.1:c.979A>G (ADA) | ENSP00000512333.1:p.Asn327Asp | |
| ENST00000696034.1:c.*125A>G (ADA) | ENSP00000512343.1:n.*125A>G | |
| ENST00000696035.1:n.1168A>G (ADA) | ||
| ENST00000696036.1:n.1683A>G (ADA) | ||
| ENST00000696037.1:n.2659A>G (ADA) | ||
| ENST00000696038.1:c.*739A>G (ADA) | ENSP00000512344.1:n.*739A>G | |
| ENST00000696039.1:n.1346A>G (ADA) | ||
| ENST00000696058.1:c.979A>G (ADA) | ENSP00000512361.1:p.Asn327Asp | |
| ENST00000696059.1:c.*927A>G (ADA) | ENSP00000512362.1:n.*927A>G | |
| ENST00000696060.1:c.1051A>G (ADA) | ENSP00000512363.1:p.Asn351Asp | |
| ENST00000696061.1:c.979A>G (ADA) | ENSP00000512364.1:p.Asn327Asp | |
| ENST00000696062.1:c.1045A>G (ADA) | ENSP00000512365.1:p.Asn349Asp | |
| ENST00000696063.1:c.1057A>G (ADA) | ENSP00000512366.1:p.Asn353Asp | |
| ENST00000696064.1:c.829A>G (ADA) | ENSP00000512367.1:p.Asn277Asp | |
| ENST00000696065.1:c.304A>G (ADA) | ENSP00000512368.1:p.Asn102Asp | |
| ENST00000696072.1:n.337A>G (ADA) | ||
| ENST00000696073.1:n.1293A>G (ADA) | ||
| ENST00000696074.1:n.533A>G (ADA) | ||
| ENST00000696075.1:c.*952A>G (ADA) | ENSP00000512374.1:n.*952A>G | |
| ENST00000696076.1:c.1051A>G (ADA) | ENSP00000512375.1:p.Asn351Asp | |
| ENST00000696077.1:c.976A>G (ADA) | ENSP00000512376.1:p.Asn326Asp | |
| ENST00000696078.1:c.979A>G (ADA) | ENSP00000512377.1:p.Asn327Asp | |
| ENST00000696079.1:c.979A>G (ADA) | ENSP00000512378.1:p.Asn327Asp | |
| ENST00000696080.1:c.982A>G (ADA) | ENSP00000512379.1:p.Asn328Asp | |
| ENST00000696081.1:n.1101A>G (ADA) | ||
| ENST00000696082.1:c.1057A>G (ADA) | ENSP00000512380.1:p.Asn353Asp | |
| ENST00000696083.1:n.1939A>G (ADA) | ||
| ENST00000696084.1:n.1159A>G (ADA) | ||
| ENST00000696104.1:c.*51A>G (ADA) | ENSP00000512399.1:n.*51A>G | |
| ENST00000372874.9:c.982A>G (ADA) MANE Select | ENSP00000361965.4:p.Asn328Asp | |
| ENST00000372874.8:c.982A>G (ADA) | ENSP00000361965.4:p.Asn328Asp | |
| ENST00000372887.5:c.152-3538T>C (PKIG) | ENSP00000361978.1:n.152-3538T>C | |
| ENST00000464097.5:n.1348A>G (ADA) | ||
| ENST00000492931.5:n.1142A>G (ADA) | ||
| ENST00000536532.5:c.*125A>G (ADA) | ENSP00000440946.1:n.*125A>G | |
| ENST00000537820.1:c.910A>G (ADA) | ENSP00000441818.1:p.Asn304Asp | |
| ENST00000539235.5:c.*366A>G (ADA) | ENSP00000446464.1:n.*366A>G | |
| NM_000022.2:c.982A>G , LRG_16t1:c.982A>G (ADA) | NP_000013.2:p.Asn328Asp | |
| XM_005260236.2:c.910A>G (ADA) | XP_005260293.1:p.Asn304Asp | |
| XM_011528478.1:c.577A>G (ADA) | XP_011526780.1:p.Asn193Asp | |
| XM_011528479.1:c.577A>G (ADA) | XP_011526781.1:p.Asn193Asp | |
| XR_244129.1:n.971A>G (ADA) | ||
| NM_000022.3:c.982A>G (ADA) | NP_000013.2:p.Asn328Asp | |
| NM_001322050.1:c.577A>G (ADA) | NP_001308979.1:p.Asn193Asp | |
| NM_001322051.1:c.910A>G (ADA) | NP_001308980.1:p.Asn304Asp | |
| NR_136160.1:n.1068A>G (ADA) | ||
| NM_000022.4:c.982A>G (ADA) MANE Select | NP_000013.2:p.Asn328Asp | |
| NM_001322050.2:c.577A>G (ADA) | NP_001308979.1:p.Asn193Asp | |
| NM_001322051.2:c.910A>G (ADA) | NP_001308980.1:p.Asn304Asp | |
| NR_136160.2:n.1009A>G (ADA) |