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
dbSNP Id:
rs2065346343
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.44622902A>C , CM000682.2:g.44622902A>C | GRCh38 |
| NC_000020.10:g.43251543A>C , CM000682.1:g.43251543A>C | GRCh37 |
| NC_000020.9:g.42684957A>C | NCBI36 |
| NG_007385.1:g.33834T>G , LRG_16:g.33834T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000492931.6:n.874T>G (ADA) | ||
| ENST00000536076.2:c.554T>G (ADA) | ENSP00000512234.1:p.Leu185Arg | |
| ENST00000536532.6:c.707T>G (ADA) | ENSP00000440946.1:p.Leu236Arg | |
| ENST00000537820.2:c.635T>G (ADA) | ENSP00000441818.1:p.Leu212Arg | |
| ENST00000539235.6:c.*91T>G (ADA) | ENSP00000446464.1:n.*91T>G | |
| ENST00000695889.1:c.247T>G (ADA) | ENSP00000512240.1:p.Trp83Gly | |
| ENST00000695890.1:n.2586T>G (ADA) | ||
| ENST00000695891.1:c.247T>G (ADA) | ENSP00000512241.1:p.Trp83Gly | |
| ENST00000695927.1:c.785T>G (ADA) | ENSP00000512270.1:p.Leu262Arg | |
| ENST00000695949.1:c.632T>G (ADA) | ENSP00000512281.1:p.Leu211Arg | |
| ENST00000695957.1:c.*198T>G (ADA) | ENSP00000512286.1:n.*198T>G | |
| ENST00000695991.1:c.245T>G (ADA) | ENSP00000512314.1:p.Leu82Arg | |
| ENST00000695992.1:c.707T>G (ADA) | ENSP00000512315.1:p.Leu236Arg | |
| ENST00000695993.1:c.707T>G (ADA) | ENSP00000512316.1:p.Leu236Arg | |
| ENST00000695994.1:c.680T>G (ADA) | ENSP00000512317.1:p.Leu227Arg | |
| ENST00000695995.1:c.317T>G (ADA) | ENSP00000512318.1:p.Leu106Arg | |
| ENST00000695996.1:n.854T>G (ADA) | ||
| ENST00000696003.1:n.875T>G (ADA) | ||
| ENST00000696004.1:n.875T>G (ADA) | ||
| ENST00000696005.1:c.157T>G (ADA) | ||
| ENST00000696006.1:c.635T>G (ADA) | ENSP00000512325.1:p.Leu212Arg | |
| ENST00000696007.1:c.634T>G (ADA) | ENSP00000512326.1:n.634T>G | |
| ENST00000696008.1:n.3061T>G (ADA) | ||
| ENST00000696017.1:c.704T>G (ADA) | ENSP00000512333.1:p.Leu235Arg | |
| ENST00000696034.1:c.707T>G (ADA) | ENSP00000512343.1:p.Leu236Arg | |
| ENST00000696035.1:n.893T>G (ADA) | ||
| ENST00000696036.1:n.1473T>G (ADA) | ||
| ENST00000696037.1:n.2384T>G (ADA) | ||
| ENST00000696038.1:c.*529T>G (ADA) | ENSP00000512344.1:n.*529T>G | |
| ENST00000696039.1:n.1071T>G (ADA) | ||
| ENST00000696058.1:c.704T>G (ADA) | ENSP00000512361.1:p.Leu235Arg | |
| ENST00000696059.1:c.*652T>G (ADA) | ENSP00000512362.1:n.*652T>G | |
| ENST00000696060.1:c.776T>G (ADA) | ENSP00000512363.1:p.Leu259Arg | |
| ENST00000696061.1:c.704T>G (ADA) | ENSP00000512364.1:p.Leu235Arg | |
| ENST00000696062.1:c.770T>G (ADA) | ENSP00000512365.1:p.Leu257Arg | |
| ENST00000696063.1:c.782T>G (ADA) | ENSP00000512366.1:p.Leu261Arg | |
| ENST00000696064.1:c.554T>G (ADA) | ENSP00000512367.1:p.Leu185Arg | |
| ENST00000696065.1:c.94T>G (ADA) | ENSP00000512368.1:p.Trp32Gly | |
| ENST00000696073.1:n.1018T>G (ADA) | ||
| ENST00000696074.1:n.323T>G (ADA) | ||
| ENST00000696075.1:c.*677T>G (ADA) | ENSP00000512374.1:n.*677T>G | |
| ENST00000696076.1:c.776T>G (ADA) | ENSP00000512375.1:p.Leu259Arg | |
| ENST00000696077.1:c.701T>G (ADA) | ENSP00000512376.1:p.Leu234Arg | |
| ENST00000696078.1:c.704T>G (ADA) | ENSP00000512377.1:p.Leu235Arg | |
| ENST00000696079.1:c.704T>G (ADA) | ENSP00000512378.1:p.Leu235Arg | |
| ENST00000696080.1:c.707T>G (ADA) | ENSP00000512379.1:p.Leu236Arg | |
| ENST00000696081.1:n.826T>G (ADA) | ||
| ENST00000696082.1:c.782T>G (ADA) | ENSP00000512380.1:p.Leu261Arg | |
| ENST00000696083.1:n.1664T>G (ADA) | ||
| ENST00000696084.1:n.884T>G (ADA) | ||
| ENST00000696104.1:c.391T>G (ADA) | ENSP00000512399.1:p.Trp131Gly | |
| ENST00000372874.9:c.707T>G (ADA) MANE Select | ENSP00000361965.4:p.Leu236Arg | |
| ENST00000372874.8:c.707T>G (ADA) | ENSP00000361965.4:p.Leu236Arg | |
| ENST00000372887.5:c.152-1031A>C (PKIG) | ENSP00000361978.1:n.152-1031A>C | |
| ENST00000464097.5:n.457T>G (ADA) | ||
| ENST00000492931.5:n.867T>G (ADA) | ||
| ENST00000536532.5:c.707T>G (ADA) | ENSP00000440946.1:p.Leu236Arg | |
| ENST00000537820.1:c.635T>G (ADA) | ENSP00000441818.1:p.Leu212Arg | |
| ENST00000539235.5:c.*91T>G (ADA) | ENSP00000446464.1:n.*91T>G | |
| NM_000022.2:c.707T>G , LRG_16t1:c.707T>G (ADA) | NP_000013.2:p.Leu236Arg | |
| XM_005260236.2:c.635T>G (ADA) | XP_005260293.1:p.Leu212Arg | |
| XM_011528478.1:c.302T>G (ADA) | XP_011526780.1:p.Leu101Arg | |
| XM_011528479.1:c.302T>G (ADA) | XP_011526781.1:p.Leu101Arg | |
| XR_244129.1:n.761T>G (ADA) | ||
| NM_000022.3:c.707T>G (ADA) | NP_000013.2:p.Leu236Arg | |
| NM_001322050.1:c.302T>G (ADA) | NP_001308979.1:p.Leu101Arg | |
| NM_001322051.1:c.635T>G (ADA) | NP_001308980.1:p.Leu212Arg | |
| NR_136160.1:n.858T>G (ADA) | ||
| NM_000022.4:c.707T>G (ADA) MANE Select | NP_000013.2:p.Leu236Arg | |
| NM_001322050.2:c.302T>G (ADA) | NP_001308979.1:p.Leu101Arg | |
| NM_001322051.2:c.635T>G (ADA) | NP_001308980.1:p.Leu212Arg | |
| NR_136160.2:n.799T>G (ADA) |