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
gnomAD v4:
20-44620401-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.44620401T>C , CM000682.2:g.44620401T>C | GRCh38 |
| NC_000020.10:g.43249042T>C , CM000682.1:g.43249042T>C | GRCh37 |
| NC_000020.9:g.42682456T>C | NCBI36 |
| NG_007385.1:g.36335A>G , LRG_16:g.36335A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000492931.6:n.1143A>G (ADA) | ||
| ENST00000536076.2:c.823A>G (ADA) | ENSP00000512234.1:p.Asn275Asp | |
| ENST00000536532.6:c.*119A>G (ADA) | ENSP00000440946.1:n.*119A>G | |
| ENST00000537820.2:c.904A>G (ADA) | ENSP00000441818.1:p.Asn302Asp | |
| ENST00000539235.6:c.*360A>G (ADA) | ENSP00000446464.1:n.*360A>G | |
| ENST00000695889.1:c.451A>G (ADA) | ENSP00000512240.1:p.Asn151Asp | |
| ENST00000695890.1:n.5087A>G (ADA) | ||
| ENST00000695891.1:c.516A>G (ADA) | ENSP00000512241.1:n.516A>G | |
| ENST00000695927.1:c.1054A>G (ADA) | ENSP00000512270.1:p.Asn352Asp | |
| ENST00000695949.1:c.901A>G (ADA) | ENSP00000512281.1:p.Asn301Asp | |
| ENST00000695956.1:c.131A>G (ADA) | ||
| ENST00000695957.1:c.*467A>G (ADA) | ENSP00000512286.1:n.*467A>G | |
| ENST00000695991.1:c.514A>G (ADA) | ENSP00000512314.1:p.Asn172Asp | |
| ENST00000695992.1:c.*119A>G (ADA) | ENSP00000512315.1:n.*119A>G | |
| ENST00000695993.1:c.976A>G (ADA) | ENSP00000512316.1:p.Asn326Asp | |
| ENST00000695994.1:c.*119A>G (ADA) | ENSP00000512317.1:n.*119A>G | |
| ENST00000695995.1:c.586A>G (ADA) | ENSP00000512318.1:p.Asn196Asp | |
| ENST00000695996.1:n.1058A>G (ADA) | ||
| ENST00000696003.1:n.2760A>G (ADA) | ||
| ENST00000696004.1:n.1760A>G (ADA) | ||
| ENST00000696005.1:c.426A>G (ADA) | ||
| ENST00000696006.1:c.*119A>G (ADA) | ENSP00000512325.1:n.*119A>G | |
| ENST00000696007.1:c.903A>G (ADA) | ENSP00000512326.1:n.903A>G | |
| ENST00000696008.1:n.3330A>G (ADA) | ||
| ENST00000696017.1:c.973A>G (ADA) | ENSP00000512333.1:p.Asn325Asp | |
| ENST00000696034.1:c.*119A>G (ADA) | ENSP00000512343.1:n.*119A>G | |
| ENST00000696035.1:n.1162A>G (ADA) | ||
| ENST00000696036.1:n.1677A>G (ADA) | ||
| ENST00000696037.1:n.2653A>G (ADA) | ||
| ENST00000696038.1:c.*733A>G (ADA) | ENSP00000512344.1:n.*733A>G | |
| ENST00000696039.1:n.1340A>G (ADA) | ||
| ENST00000696058.1:c.973A>G (ADA) | ENSP00000512361.1:p.Asn325Asp | |
| ENST00000696059.1:c.*921A>G (ADA) | ENSP00000512362.1:n.*921A>G | |
| ENST00000696060.1:c.1045A>G (ADA) | ENSP00000512363.1:p.Asn349Asp | |
| ENST00000696061.1:c.973A>G (ADA) | ENSP00000512364.1:p.Asn325Asp | |
| ENST00000696062.1:c.1039A>G (ADA) | ENSP00000512365.1:p.Asn347Asp | |
| ENST00000696063.1:c.1051A>G (ADA) | ENSP00000512366.1:p.Asn351Asp | |
| ENST00000696064.1:c.823A>G (ADA) | ENSP00000512367.1:p.Asn275Asp | |
| ENST00000696065.1:c.298A>G (ADA) | ENSP00000512368.1:p.Asn100Asp | |
| ENST00000696072.1:n.331A>G (ADA) | ||
| ENST00000696073.1:n.1287A>G (ADA) | ||
| ENST00000696074.1:n.527A>G (ADA) | ||
| ENST00000696075.1:c.*946A>G (ADA) | ENSP00000512374.1:n.*946A>G | |
| ENST00000696076.1:c.1045A>G (ADA) | ENSP00000512375.1:p.Asn349Asp | |
| ENST00000696077.1:c.970A>G (ADA) | ENSP00000512376.1:p.Asn324Asp | |
| ENST00000696078.1:c.973A>G (ADA) | ENSP00000512377.1:p.Asn325Asp | |
| ENST00000696079.1:c.973A>G (ADA) | ENSP00000512378.1:p.Asn325Asp | |
| ENST00000696080.1:c.976A>G (ADA) | ENSP00000512379.1:p.Asn326Asp | |
| ENST00000696081.1:n.1095A>G (ADA) | ||
| ENST00000696082.1:c.1051A>G (ADA) | ENSP00000512380.1:p.Asn351Asp | |
| ENST00000696083.1:n.1933A>G (ADA) | ||
| ENST00000696084.1:n.1153A>G (ADA) | ||
| ENST00000696104.1:c.*45A>G (ADA) | ENSP00000512399.1:n.*45A>G | |
| ENST00000372874.9:c.976A>G (ADA) MANE Select | ENSP00000361965.4:p.Asn326Asp | |
| ENST00000372874.8:c.976A>G (ADA) | ENSP00000361965.4:p.Asn326Asp | |
| ENST00000372887.5:c.152-3532T>C (PKIG) | ENSP00000361978.1:n.152-3532T>C | |
| ENST00000464097.5:n.1342A>G (ADA) | ||
| ENST00000492931.5:n.1136A>G (ADA) | ||
| ENST00000536532.5:c.*119A>G (ADA) | ENSP00000440946.1:n.*119A>G | |
| ENST00000537820.1:c.904A>G (ADA) | ENSP00000441818.1:p.Asn302Asp | |
| ENST00000539235.5:c.*360A>G (ADA) | ENSP00000446464.1:n.*360A>G | |
| NM_000022.2:c.976A>G , LRG_16t1:c.976A>G (ADA) | NP_000013.2:p.Asn326Asp | |
| XM_005260236.2:c.904A>G (ADA) | XP_005260293.1:p.Asn302Asp | |
| XM_011528478.1:c.571A>G (ADA) | XP_011526780.1:p.Asn191Asp | |
| XM_011528479.1:c.571A>G (ADA) | XP_011526781.1:p.Asn191Asp | |
| XR_244129.1:n.965A>G (ADA) | ||
| NM_000022.3:c.976A>G (ADA) | NP_000013.2:p.Asn326Asp | |
| NM_001322050.1:c.571A>G (ADA) | NP_001308979.1:p.Asn191Asp | |
| NM_001322051.1:c.904A>G (ADA) | NP_001308980.1:p.Asn302Asp | |
| NR_136160.1:n.1062A>G (ADA) | ||
| NM_000022.4:c.976A>G (ADA) MANE Select | NP_000013.2:p.Asn326Asp | |
| NM_001322050.2:c.571A>G (ADA) | NP_001308979.1:p.Asn191Asp | |
| NM_001322051.2:c.904A>G (ADA) | NP_001308980.1:p.Asn302Asp | |
| NR_136160.2:n.1003A>G (ADA) |