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.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.44620399G>A , CM000682.2:g.44620399G>A | GRCh38 |
| NC_000020.10:g.43249040G>A , CM000682.1:g.43249040G>A | GRCh37 |
| NC_000020.9:g.42682454G>A | NCBI36 |
| NG_007385.1:g.36337C>T , LRG_16:g.36337C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000492931.6:n.1145C>T (ADA) | ||
| ENST00000536076.2:c.825C>T (ADA) | ENSP00000512234.1:p.Asn275= | |
| ENST00000536532.6:c.*121C>T (ADA) | ENSP00000440946.1:n.*121C>T | |
| ENST00000537820.2:c.906C>T (ADA) | ENSP00000441818.1:p.Asn302= | |
| ENST00000539235.6:c.*362C>T (ADA) | ENSP00000446464.1:n.*362C>T | |
| ENST00000695889.1:c.453C>T (ADA) | ENSP00000512240.1:p.Asn151= | |
| ENST00000695890.1:n.5089C>T (ADA) | ||
| ENST00000695891.1:c.518C>T (ADA) | ENSP00000512241.1:n.518C>T | |
| ENST00000695927.1:c.1056C>T (ADA) | ENSP00000512270.1:p.Asn352= | |
| ENST00000695949.1:c.903C>T (ADA) | ENSP00000512281.1:p.Asn301= | |
| ENST00000695956.1:c.133C>T (ADA) | ||
| ENST00000695957.1:c.*469C>T (ADA) | ENSP00000512286.1:n.*469C>T | |
| ENST00000695991.1:c.516C>T (ADA) | ENSP00000512314.1:p.Asn172= | |
| ENST00000695992.1:c.*121C>T (ADA) | ENSP00000512315.1:n.*121C>T | |
| ENST00000695993.1:c.978C>T (ADA) | ENSP00000512316.1:p.Asn326= | |
| ENST00000695994.1:c.*121C>T (ADA) | ENSP00000512317.1:n.*121C>T | |
| ENST00000695995.1:c.588C>T (ADA) | ENSP00000512318.1:p.Asn196= | |
| ENST00000695996.1:n.1060C>T (ADA) | ||
| ENST00000696003.1:n.2762C>T (ADA) | ||
| ENST00000696004.1:n.1762C>T (ADA) | ||
| ENST00000696005.1:c.428C>T (ADA) | ||
| ENST00000696006.1:c.*121C>T (ADA) | ENSP00000512325.1:n.*121C>T | |
| ENST00000696007.1:c.905C>T (ADA) | ENSP00000512326.1:n.905C>T | |
| ENST00000696008.1:n.3332C>T (ADA) | ||
| ENST00000696017.1:c.975C>T (ADA) | ENSP00000512333.1:p.Asn325= | |
| ENST00000696034.1:c.*121C>T (ADA) | ENSP00000512343.1:n.*121C>T | |
| ENST00000696035.1:n.1164C>T (ADA) | ||
| ENST00000696036.1:n.1679C>T (ADA) | ||
| ENST00000696037.1:n.2655C>T (ADA) | ||
| ENST00000696038.1:c.*735C>T (ADA) | ENSP00000512344.1:n.*735C>T | |
| ENST00000696039.1:n.1342C>T (ADA) | ||
| ENST00000696058.1:c.975C>T (ADA) | ENSP00000512361.1:p.Asn325= | |
| ENST00000696059.1:c.*923C>T (ADA) | ENSP00000512362.1:n.*923C>T | |
| ENST00000696060.1:c.1047C>T (ADA) | ENSP00000512363.1:p.Asn349= | |
| ENST00000696061.1:c.975C>T (ADA) | ENSP00000512364.1:p.Asn325= | |
| ENST00000696062.1:c.1041C>T (ADA) | ENSP00000512365.1:p.Asn347= | |
| ENST00000696063.1:c.1053C>T (ADA) | ENSP00000512366.1:p.Asn351= | |
| ENST00000696064.1:c.825C>T (ADA) | ENSP00000512367.1:p.Asn275= | |
| ENST00000696065.1:c.300C>T (ADA) | ENSP00000512368.1:p.Asn100= | |
| ENST00000696072.1:n.333C>T (ADA) | ||
| ENST00000696073.1:n.1289C>T (ADA) | ||
| ENST00000696074.1:n.529C>T (ADA) | ||
| ENST00000696075.1:c.*948C>T (ADA) | ENSP00000512374.1:n.*948C>T | |
| ENST00000696076.1:c.1047C>T (ADA) | ENSP00000512375.1:p.Asn349= | |
| ENST00000696077.1:c.972C>T (ADA) | ENSP00000512376.1:p.Asn324= | |
| ENST00000696078.1:c.975C>T (ADA) | ENSP00000512377.1:p.Asn325= | |
| ENST00000696079.1:c.975C>T (ADA) | ENSP00000512378.1:p.Asn325= | |
| ENST00000696080.1:c.978C>T (ADA) | ENSP00000512379.1:p.Asn326= | |
| ENST00000696081.1:n.1097C>T (ADA) | ||
| ENST00000696082.1:c.1053C>T (ADA) | ENSP00000512380.1:p.Asn351= | |
| ENST00000696083.1:n.1935C>T (ADA) | ||
| ENST00000696084.1:n.1155C>T (ADA) | ||
| ENST00000696104.1:c.*47C>T (ADA) | ENSP00000512399.1:n.*47C>T | |
| ENST00000372874.9:c.978C>T (ADA) MANE Select | ENSP00000361965.4:p.Asn326= | |
| ENST00000372874.8:c.978C>T (ADA) | ENSP00000361965.4:p.Asn326= | |
| ENST00000372887.5:c.152-3534G>A (PKIG) | ENSP00000361978.1:n.152-3534G>A | |
| ENST00000464097.5:n.1344C>T (ADA) | ||
| ENST00000492931.5:n.1138C>T (ADA) | ||
| ENST00000536532.5:c.*121C>T (ADA) | ENSP00000440946.1:n.*121C>T | |
| ENST00000537820.1:c.906C>T (ADA) | ENSP00000441818.1:p.Asn302= | |
| ENST00000539235.5:c.*362C>T (ADA) | ENSP00000446464.1:n.*362C>T | |
| NM_000022.2:c.978C>T , LRG_16t1:c.978C>T (ADA) | NP_000013.2:p.Asn326= | |
| XM_005260236.2:c.906C>T (ADA) | XP_005260293.1:p.Asn302= | |
| XM_011528478.1:c.573C>T (ADA) | XP_011526780.1:p.Asn191= | |
| XM_011528479.1:c.573C>T (ADA) | XP_011526781.1:p.Asn191= | |
| XR_244129.1:n.967C>T (ADA) | ||
| NM_000022.3:c.978C>T (ADA) | NP_000013.2:p.Asn326= | |
| NM_001322050.1:c.573C>T (ADA) | NP_001308979.1:p.Asn191= | |
| NM_001322051.1:c.906C>T (ADA) | NP_001308980.1:p.Asn302= | |
| NR_136160.1:n.1064C>T (ADA) | ||
| NM_000022.4:c.978C>T (ADA) MANE Select | NP_000013.2:p.Asn326= | |
| NM_001322050.2:c.573C>T (ADA) | NP_001308979.1:p.Asn191= | |
| NM_001322051.2:c.906C>T (ADA) | NP_001308980.1:p.Asn302= | |
| NR_136160.2:n.1005C>T (ADA) |