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:
20-44620404-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.44620404G>A , CM000682.2:g.44620404G>A | GRCh38 |
| NC_000020.10:g.43249045G>A , CM000682.1:g.43249045G>A | GRCh37 |
| NC_000020.9:g.42682459G>A | NCBI36 |
| NG_007385.1:g.36332C>T , LRG_16:g.36332C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000492931.6:n.1143-3C>T (ADA) | ||
| ENST00000536076.2:c.823-3C>T (ADA) | ENSP00000512234.1:n.823-3C>T | |
| ENST00000536532.6:c.*119-3C>T (ADA) | ENSP00000440946.1:n.*119-3C>T | |
| ENST00000537820.2:c.904-3C>T (ADA) | ENSP00000441818.1:n.904-3C>T | |
| ENST00000539235.6:c.*360-3C>T (ADA) | ENSP00000446464.1:n.*360-3C>T | |
| ENST00000695889.1:c.451-3C>T (ADA) | ENSP00000512240.1:n.451-3C>T | |
| ENST00000695890.1:n.5084C>T (ADA) | ||
| ENST00000695891.1:c.516-3C>T (ADA) | ENSP00000512241.1:n.516-3C>T | |
| ENST00000695927.1:c.1054-3C>T (ADA) | ENSP00000512270.1:n.1054-3C>T | |
| ENST00000695949.1:c.901-3C>T (ADA) | ENSP00000512281.1:n.901-3C>T | |
| ENST00000695956.1:c.131-3C>T (ADA) | ||
| ENST00000695957.1:c.*467-3C>T (ADA) | ENSP00000512286.1:n.*467-3C>T | |
| ENST00000695991.1:c.514-3C>T (ADA) | ENSP00000512314.1:n.514-3C>T | |
| ENST00000695992.1:c.*119-3C>T (ADA) | ENSP00000512315.1:n.*119-3C>T | |
| ENST00000695993.1:c.976-3C>T (ADA) | ENSP00000512316.1:n.976-3C>T | |
| ENST00000695994.1:c.*119-3C>T (ADA) | ENSP00000512317.1:n.*119-3C>T | |
| ENST00000695995.1:c.586-3C>T (ADA) | ENSP00000512318.1:n.586-3C>T | |
| ENST00000695996.1:n.1058-3C>T (ADA) | ||
| ENST00000696003.1:n.2760-3C>T (ADA) | ||
| ENST00000696004.1:n.1757C>T (ADA) | ||
| ENST00000696005.1:c.426-3C>T (ADA) | ||
| ENST00000696006.1:c.*119-3C>T (ADA) | ENSP00000512325.1:n.*119-3C>T | |
| ENST00000696007.1:c.903-3C>T (ADA) | ENSP00000512326.1:n.903-3C>T | |
| ENST00000696008.1:n.3330-3C>T (ADA) | ||
| ENST00000696017.1:c.973-3C>T (ADA) | ENSP00000512333.1:n.973-3C>T | |
| ENST00000696034.1:c.*119-3C>T (ADA) | ENSP00000512343.1:n.*119-3C>T | |
| ENST00000696035.1:n.1162-3C>T (ADA) | ||
| ENST00000696036.1:n.1677-3C>T (ADA) | ||
| ENST00000696037.1:n.2653-3C>T (ADA) | ||
| ENST00000696038.1:c.*733-3C>T (ADA) | ENSP00000512344.1:n.*733-3C>T | |
| ENST00000696039.1:n.1340-3C>T (ADA) | ||
| ENST00000696058.1:c.973-3C>T (ADA) | ENSP00000512361.1:n.973-3C>T | |
| ENST00000696059.1:c.*921-3C>T (ADA) | ENSP00000512362.1:n.*921-3C>T | |
| ENST00000696060.1:c.1045-3C>T (ADA) | ENSP00000512363.1:n.1045-3C>T | |
| ENST00000696061.1:c.973-3C>T (ADA) | ENSP00000512364.1:n.973-3C>T | |
| ENST00000696062.1:c.1039-3C>T (ADA) | ENSP00000512365.1:n.1039-3C>T | |
| ENST00000696063.1:c.1051-3C>T (ADA) | ENSP00000512366.1:n.1051-3C>T | |
| ENST00000696064.1:c.823-3C>T (ADA) | ENSP00000512367.1:n.823-3C>T | |
| ENST00000696065.1:c.298-3C>T (ADA) | ENSP00000512368.1:n.298-3C>T | |
| ENST00000696072.1:n.331-3C>T (ADA) | ||
| ENST00000696073.1:n.1287-3C>T (ADA) | ||
| ENST00000696074.1:n.527-3C>T (ADA) | ||
| ENST00000696075.1:c.*946-3C>T (ADA) | ENSP00000512374.1:n.*946-3C>T | |
| ENST00000696076.1:c.1045-3C>T (ADA) | ENSP00000512375.1:n.1045-3C>T | |
| ENST00000696077.1:c.970-3C>T (ADA) | ENSP00000512376.1:n.970-3C>T | |
| ENST00000696078.1:c.973-3C>T (ADA) | ENSP00000512377.1:n.973-3C>T | |
| ENST00000696079.1:c.973-3C>T (ADA) | ENSP00000512378.1:n.973-3C>T | |
| ENST00000696080.1:c.976-3C>T (ADA) | ENSP00000512379.1:n.976-3C>T | |
| ENST00000696081.1:n.1095-3C>T (ADA) | ||
| ENST00000696082.1:c.1051-3C>T (ADA) | ENSP00000512380.1:n.1051-3C>T | |
| ENST00000696083.1:n.1933-3C>T (ADA) | ||
| ENST00000696084.1:n.1153-3C>T (ADA) | ||
| ENST00000696104.1:c.*45-3C>T (ADA) | ENSP00000512399.1:n.*45-3C>T | |
| ENST00000372874.9:c.976-3C>T (ADA) MANE Select | ENSP00000361965.4:n.976-3C>T | |
| ENST00000372874.8:c.976-3C>T (ADA) | ENSP00000361965.4:n.976-3C>T | |
| ENST00000372887.5:c.152-3529G>A (PKIG) | ENSP00000361978.1:n.152-3529G>A | |
| ENST00000464097.5:n.1339C>T (ADA) | ||
| ENST00000492931.5:n.1136-3C>T (ADA) | ||
| ENST00000536532.5:c.*119-3C>T (ADA) | ENSP00000440946.1:n.*119-3C>T | |
| ENST00000537820.1:c.904-3C>T (ADA) | ENSP00000441818.1:n.904-3C>T | |
| ENST00000539235.5:c.*360-3C>T (ADA) | ENSP00000446464.1:n.*360-3C>T | |
| NM_000022.2:c.976-3C>T , LRG_16t1:c.976-3C>T (ADA) | NP_000013.2:n.976-3C>T | |
| XM_005260236.2:c.904-3C>T (ADA) | XP_005260293.1:n.904-3C>T | |
| XM_011528478.1:c.571-3C>T (ADA) | XP_011526780.1:n.571-3C>T | |
| XM_011528479.1:c.571-3C>T (ADA) | XP_011526781.1:n.571-3C>T | |
| XR_244129.1:n.965-3C>T (ADA) | ||
| NM_000022.3:c.976-3C>T (ADA) | NP_000013.2:n.976-3C>T | |
| NM_001322050.1:c.571-3C>T (ADA) | NP_001308979.1:n.571-3C>T | |
| NM_001322051.1:c.904-3C>T (ADA) | NP_001308980.1:n.904-3C>T | |
| NR_136160.1:n.1062-3C>T (ADA) | ||
| NM_000022.4:c.976-3C>T (ADA) MANE Select | NP_000013.2:n.976-3C>T | |
| NM_001322050.2:c.571-3C>T (ADA) | NP_001308979.1:n.571-3C>T | |
| NM_001322051.2:c.904-3C>T (ADA) | NP_001308980.1:n.904-3C>T | |
| NR_136160.2:n.1003-3C>T (ADA) |