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.43252861T>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.44624220T>G , CM000682.2:g.44624220T>G | GRCh38 |
| NC_000020.10:g.43252861T>G , CM000682.1:g.43252861T>G | GRCh37 |
| NC_000020.9:g.42686275T>G | NCBI36 |
| NG_007385.1:g.32516A>C , LRG_16:g.32516A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000492931.6:n.679A>C (ADA) | ||
| ENST00000536076.2:c.435A>C (ADA) | ENSP00000512234.1:p.Gly145= | |
| ENST00000536532.6:c.588A>C (ADA) | ENSP00000440946.1:p.Gly196= | |
| ENST00000537820.2:c.588A>C (ADA) | ENSP00000441818.1:p.Gly196= | |
| ENST00000539235.6:c.219-1142A>C (ADA) | ENSP00000446464.1:n.219-1142A>C | |
| ENST00000695889.1:c.219-1290A>C (ADA) | ENSP00000512240.1:n.219-1290A>C | |
| ENST00000695890.1:n.2391A>C (ADA) | ||
| ENST00000695891.1:c.219-1290A>C (ADA) | ENSP00000512241.1:n.219-1290A>C | |
| ENST00000695927.1:c.666A>C (ADA) | ENSP00000512270.1:p.Gly222= | |
| ENST00000695949.1:c.585A>C (ADA) | ENSP00000512281.1:p.Gly195= | |
| ENST00000695957.1:c.*79A>C (ADA) | ENSP00000512286.1:n.*79A>C | |
| ENST00000695991.1:c.217-1290A>C (ADA) | ENSP00000512314.1:n.217-1290A>C | |
| ENST00000695992.1:c.588A>C (ADA) | ENSP00000512315.1:p.Gly196= | |
| ENST00000695993.1:c.588A>C (ADA) | ENSP00000512316.1:p.Gly196= | |
| ENST00000695994.1:c.588A>C (ADA) | ENSP00000512317.1:p.Gly196= | |
| ENST00000695995.1:c.217-1142A>C (ADA) | ENSP00000512318.1:n.217-1142A>C | |
| ENST00000695996.1:n.659A>C (ADA) | ||
| ENST00000695997.1:n.543A>C (ADA) | ||
| ENST00000696003.1:n.680A>C (ADA) | ||
| ENST00000696004.1:n.680A>C (ADA) | ||
| ENST00000696005.1:c.110A>C (ADA) | ||
| ENST00000696006.1:c.588A>C (ADA) | ENSP00000512325.1:p.Gly196= | |
| ENST00000696007.1:c.439A>C (ADA) | ENSP00000512326.1:n.439A>C | |
| ENST00000696008.1:n.1743A>C (ADA) | ||
| ENST00000696009.1:n.1938A>C (ADA) | ||
| ENST00000696017.1:c.585A>C (ADA) | ENSP00000512333.1:p.Gly195= | |
| ENST00000696034.1:c.588A>C (ADA) | ENSP00000512343.1:p.Gly196= | |
| ENST00000696035.1:n.698A>C (ADA) | ||
| ENST00000696036.1:n.1278A>C (ADA) | ||
| ENST00000696037.1:n.2265A>C (ADA) | ||
| ENST00000696038.1:c.*334A>C (ADA) | ENSP00000512344.1:n.*334A>C | |
| ENST00000696039.1:n.876A>C (ADA) | ||
| ENST00000696058.1:c.588A>C (ADA) | ENSP00000512361.1:p.Gly196= | |
| ENST00000696059.1:c.*533A>C (ADA) | ENSP00000512362.1:n.*533A>C | |
| ENST00000696060.1:c.588A>C (ADA) | ENSP00000512363.1:p.Gly196= | |
| ENST00000696061.1:c.585A>C (ADA) | ENSP00000512364.1:p.Gly195= | |
| ENST00000696062.1:c.651A>C (ADA) | ENSP00000512365.1:p.Gly217= | |
| ENST00000696063.1:c.663A>C (ADA) | ENSP00000512366.1:p.Gly221= | |
| ENST00000696064.1:c.435A>C (ADA) | ENSP00000512367.1:p.Gly145= | |
| ENST00000696065.1:c.66-1290A>C (ADA) | ENSP00000512368.1:n.66-1290A>C | |
| ENST00000696074.1:n.204A>C (ADA) | ||
| ENST00000696075.1:c.*558A>C (ADA) | ENSP00000512374.1:n.*558A>C | |
| ENST00000696076.1:c.588A>C (ADA) | ENSP00000512375.1:p.Gly196= | |
| ENST00000696077.1:c.585A>C (ADA) | ENSP00000512376.1:p.Gly195= | |
| ENST00000696078.1:c.588A>C (ADA) | ENSP00000512377.1:p.Gly196= | |
| ENST00000696079.1:c.588A>C (ADA) | ENSP00000512378.1:p.Gly196= | |
| ENST00000696080.1:c.588A>C (ADA) | ENSP00000512379.1:p.Gly196= | |
| ENST00000696081.1:n.707A>C (ADA) | ||
| ENST00000696082.1:c.666A>C (ADA) | ENSP00000512380.1:p.Gly222= | |
| ENST00000696083.1:n.1469A>C (ADA) | ||
| ENST00000696084.1:n.689A>C (ADA) | ||
| ENST00000696104.1:c.363-1290A>C (ADA) | ENSP00000512399.1:n.363-1290A>C | |
| ENST00000696105.1:c.*129A>C (ADA) | ENSP00000512400.1:n.*129A>C | |
| ENST00000372874.9:c.588A>C (ADA) MANE Select | ENSP00000361965.4:p.Gly196= | |
| ENST00000372874.8:c.588A>C (ADA) | ENSP00000361965.4:p.Gly196= | |
| ENST00000372887.5:c.*244T>G (PKIG) | ENSP00000361978.1:n.*244T>G | |
| ENST00000464097.5:n.262A>C (ADA) | ||
| ENST00000492931.5:n.672A>C (ADA) | ||
| ENST00000536532.5:c.588A>C (ADA) | ENSP00000440946.1:p.Gly196= | |
| ENST00000537820.1:c.588A>C (ADA) | ENSP00000441818.1:p.Gly196= | |
| ENST00000539235.5:c.219-1142A>C (ADA) | ENSP00000446464.1:n.219-1142A>C | |
| NM_000022.2:c.588A>C , LRG_16t1:c.588A>C (ADA) | NP_000013.2:p.Gly196= | |
| XM_005260236.2:c.588A>C (ADA) | XP_005260293.1:p.Gly196= | |
| XM_011528478.1:c.183A>C (ADA) | XP_011526780.1:p.Gly61= | |
| XM_011528479.1:c.183A>C (ADA) | XP_011526781.1:p.Gly61= | |
| XR_244129.1:n.642A>C (ADA) | ||
| NM_000022.3:c.588A>C (ADA) | NP_000013.2:p.Gly196= | |
| NM_001322050.1:c.183A>C (ADA) | NP_001308979.1:p.Gly61= | |
| NM_001322051.1:c.588A>C (ADA) | NP_001308980.1:p.Gly196= | |
| NR_136160.1:n.739A>C (ADA) | ||
| NM_000022.4:c.588A>C (ADA) MANE Select | NP_000013.2:p.Gly196= | |
| NM_001322050.2:c.183A>C (ADA) | NP_001308979.1:p.Gly61= | |
| NM_001322051.2:c.588A>C (ADA) | NP_001308980.1:p.Gly196= | |
| NR_136160.2:n.680A>C (ADA) |