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
MyVariant Identifiers:
chr20:g.43249037G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.44620396G>A , CM000682.2:g.44620396G>A | GRCh38 |
| NC_000020.10:g.43249037G>A , CM000682.1:g.43249037G>A | GRCh37 |
| NC_000020.9:g.42682451G>A | NCBI36 |
| NG_007385.1:g.36340C>T , LRG_16:g.36340C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000492931.6:n.1148C>T (ADA) | ||
| ENST00000536076.2:c.828C>T (ADA) | ENSP00000512234.1:p.Ile276= | |
| ENST00000536532.6:c.*124C>T (ADA) | ENSP00000440946.1:n.*124C>T | |
| ENST00000537820.2:c.909C>T (ADA) | ENSP00000441818.1:p.Ile303= | |
| ENST00000539235.6:c.*365C>T (ADA) | ENSP00000446464.1:n.*365C>T | |
| ENST00000695889.1:c.456C>T (ADA) | ENSP00000512240.1:p.Ile152= | |
| ENST00000695890.1:n.5092C>T (ADA) | ||
| ENST00000695891.1:c.521C>T (ADA) | ENSP00000512241.1:n.521C>T | |
| ENST00000695927.1:c.1059C>T (ADA) | ENSP00000512270.1:p.Ile353= | |
| ENST00000695949.1:c.906C>T (ADA) | ENSP00000512281.1:p.Ile302= | |
| ENST00000695956.1:c.136C>T (ADA) | ||
| ENST00000695957.1:c.*472C>T (ADA) | ENSP00000512286.1:n.*472C>T | |
| ENST00000695991.1:c.519C>T (ADA) | ENSP00000512314.1:p.Ile173= | |
| ENST00000695992.1:c.*124C>T (ADA) | ENSP00000512315.1:n.*124C>T | |
| ENST00000695993.1:c.981C>T (ADA) | ENSP00000512316.1:p.Ile327= | |
| ENST00000695994.1:c.*124C>T (ADA) | ENSP00000512317.1:n.*124C>T | |
| ENST00000695995.1:c.591C>T (ADA) | ENSP00000512318.1:p.Ile197= | |
| ENST00000695996.1:n.1063C>T (ADA) | ||
| ENST00000696003.1:n.2765C>T (ADA) | ||
| ENST00000696004.1:n.1765C>T (ADA) | ||
| ENST00000696005.1:c.431C>T (ADA) | ||
| ENST00000696006.1:c.*124C>T (ADA) | ENSP00000512325.1:n.*124C>T | |
| ENST00000696007.1:c.908C>T (ADA) | ENSP00000512326.1:n.908C>T | |
| ENST00000696008.1:n.3335C>T (ADA) | ||
| ENST00000696017.1:c.978C>T (ADA) | ENSP00000512333.1:p.Ile326= | |
| ENST00000696034.1:c.*124C>T (ADA) | ENSP00000512343.1:n.*124C>T | |
| ENST00000696035.1:n.1167C>T (ADA) | ||
| ENST00000696036.1:n.1682C>T (ADA) | ||
| ENST00000696037.1:n.2658C>T (ADA) | ||
| ENST00000696038.1:c.*738C>T (ADA) | ENSP00000512344.1:n.*738C>T | |
| ENST00000696039.1:n.1345C>T (ADA) | ||
| ENST00000696058.1:c.978C>T (ADA) | ENSP00000512361.1:p.Ile326= | |
| ENST00000696059.1:c.*926C>T (ADA) | ENSP00000512362.1:n.*926C>T | |
| ENST00000696060.1:c.1050C>T (ADA) | ENSP00000512363.1:p.Ile350= | |
| ENST00000696061.1:c.978C>T (ADA) | ENSP00000512364.1:p.Ile326= | |
| ENST00000696062.1:c.1044C>T (ADA) | ENSP00000512365.1:p.Ile348= | |
| ENST00000696063.1:c.1056C>T (ADA) | ENSP00000512366.1:p.Ile352= | |
| ENST00000696064.1:c.828C>T (ADA) | ENSP00000512367.1:p.Ile276= | |
| ENST00000696065.1:c.303C>T (ADA) | ENSP00000512368.1:p.Ile101= | |
| ENST00000696072.1:n.336C>T (ADA) | ||
| ENST00000696073.1:n.1292C>T (ADA) | ||
| ENST00000696074.1:n.532C>T (ADA) | ||
| ENST00000696075.1:c.*951C>T (ADA) | ENSP00000512374.1:n.*951C>T | |
| ENST00000696076.1:c.1050C>T (ADA) | ENSP00000512375.1:p.Ile350= | |
| ENST00000696077.1:c.975C>T (ADA) | ENSP00000512376.1:p.Ile325= | |
| ENST00000696078.1:c.978C>T (ADA) | ENSP00000512377.1:p.Ile326= | |
| ENST00000696079.1:c.978C>T (ADA) | ENSP00000512378.1:p.Ile326= | |
| ENST00000696080.1:c.981C>T (ADA) | ENSP00000512379.1:p.Ile327= | |
| ENST00000696081.1:n.1100C>T (ADA) | ||
| ENST00000696082.1:c.1056C>T (ADA) | ENSP00000512380.1:p.Ile352= | |
| ENST00000696083.1:n.1938C>T (ADA) | ||
| ENST00000696084.1:n.1158C>T (ADA) | ||
| ENST00000696104.1:c.*50C>T (ADA) | ENSP00000512399.1:n.*50C>T | |
| ENST00000372874.9:c.981C>T (ADA) MANE Select | ENSP00000361965.4:p.Ile327= | |
| ENST00000372874.8:c.981C>T (ADA) | ENSP00000361965.4:p.Ile327= | |
| ENST00000372887.5:c.152-3537G>A (PKIG) | ENSP00000361978.1:n.152-3537G>A | |
| ENST00000464097.5:n.1347C>T (ADA) | ||
| ENST00000492931.5:n.1141C>T (ADA) | ||
| ENST00000536532.5:c.*124C>T (ADA) | ENSP00000440946.1:n.*124C>T | |
| ENST00000537820.1:c.909C>T (ADA) | ENSP00000441818.1:p.Ile303= | |
| ENST00000539235.5:c.*365C>T (ADA) | ENSP00000446464.1:n.*365C>T | |
| NM_000022.2:c.981C>T , LRG_16t1:c.981C>T (ADA) | NP_000013.2:p.Ile327= | |
| XM_005260236.2:c.909C>T (ADA) | XP_005260293.1:p.Ile303= | |
| XM_011528478.1:c.576C>T (ADA) | XP_011526780.1:p.Ile192= | |
| XM_011528479.1:c.576C>T (ADA) | XP_011526781.1:p.Ile192= | |
| XR_244129.1:n.970C>T (ADA) | ||
| NM_000022.3:c.981C>T (ADA) | NP_000013.2:p.Ile327= | |
| NM_001322050.1:c.576C>T (ADA) | NP_001308979.1:p.Ile192= | |
| NM_001322051.1:c.909C>T (ADA) | NP_001308980.1:p.Ile303= | |
| NR_136160.1:n.1067C>T (ADA) | ||
| NM_000022.4:c.981C>T (ADA) MANE Select | NP_000013.2:p.Ile327= | |
| NM_001322050.2:c.576C>T (ADA) | NP_001308979.1:p.Ile192= | |
| NM_001322051.2:c.909C>T (ADA) | NP_001308980.1:p.Ile303= | |
| NR_136160.2:n.1008C>T (ADA) |