Linked Data
ClinVar Variation Id:
1136003
ClinVar RCV Id:
RCV001471504
dbSNP Id:
rs1469964785
gnomAD v4:
20-44623073-A-T
MyVariant Identifiers:
chr20:g.43251714A>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.44623073A>T , CM000682.2:g.44623073A>T | GRCh38 |
| NC_000020.10:g.43251714A>T , CM000682.1:g.43251714A>T | GRCh37 |
| NC_000020.9:g.42685128A>T | NCBI36 |
| NG_007385.1:g.33663T>A , LRG_16:g.33663T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000492931.6:n.703T>A (ADA) | ||
| ENST00000536076.2:c.459T>A (ADA) | ENSP00000512234.1:p.Ala153= | |
| ENST00000536532.6:c.612T>A (ADA) | ENSP00000440946.1:p.Ala204= | |
| ENST00000537820.2:c.607-143T>A (ADA) | ENSP00000441818.1:n.607-143T>A | |
| ENST00000539235.6:c.224T>A (ADA) | ENSP00000446464.1:p.Leu75Gln | |
| ENST00000695889.1:c.219-143T>A (ADA) | ENSP00000512240.1:n.219-143T>A | |
| ENST00000695890.1:n.2415T>A (ADA) | ||
| ENST00000695891.1:c.219-143T>A (ADA) | ENSP00000512241.1:n.219-143T>A | |
| ENST00000695927.1:c.690T>A (ADA) | ENSP00000512270.1:p.Ala230= | |
| ENST00000695949.1:c.604-143T>A (ADA) | ENSP00000512281.1:n.604-143T>A | |
| ENST00000695957.1:c.*103T>A (ADA) | ENSP00000512286.1:n.*103T>A | |
| ENST00000695991.1:c.217-143T>A (ADA) | ENSP00000512314.1:n.217-143T>A | |
| ENST00000695992.1:c.612T>A (ADA) | ENSP00000512315.1:p.Ala204= | |
| ENST00000695993.1:c.612T>A (ADA) | ENSP00000512316.1:p.Ala204= | |
| ENST00000695994.1:c.612T>A (ADA) | ENSP00000512317.1:p.Ala204= | |
| ENST00000695995.1:c.222T>A (ADA) | ENSP00000512318.1:p.Ala74= | |
| ENST00000695996.1:n.683T>A (ADA) | ||
| ENST00000696003.1:n.704T>A (ADA) | ||
| ENST00000696004.1:n.704T>A (ADA) | ||
| ENST00000696005.1:c.129-143T>A (ADA) | ||
| ENST00000696006.1:c.607-143T>A (ADA) | ENSP00000512325.1:n.607-143T>A | |
| ENST00000696007.1:c.463T>A (ADA) | ENSP00000512326.1:n.463T>A | |
| ENST00000696008.1:n.2890T>A (ADA) | ||
| ENST00000696017.1:c.609T>A (ADA) | ENSP00000512333.1:p.Ala203= | |
| ENST00000696034.1:c.612T>A (ADA) | ENSP00000512343.1:p.Ala204= | |
| ENST00000696035.1:n.722T>A (ADA) | ||
| ENST00000696036.1:n.1302T>A (ADA) | ||
| ENST00000696037.1:n.2289T>A (ADA) | ||
| ENST00000696038.1:c.*358T>A (ADA) | ENSP00000512344.1:n.*358T>A | |
| ENST00000696039.1:n.900T>A (ADA) | ||
| ENST00000696058.1:c.609T>A (ADA) | ENSP00000512361.1:p.Ala203= | |
| ENST00000696059.1:c.*557T>A (ADA) | ENSP00000512362.1:n.*557T>A | |
| ENST00000696060.1:c.681T>A (ADA) | ENSP00000512363.1:p.Ala227= | |
| ENST00000696061.1:c.609T>A (ADA) | ENSP00000512364.1:p.Ala203= | |
| ENST00000696062.1:c.675T>A (ADA) | ENSP00000512365.1:p.Ala225= | |
| ENST00000696063.1:c.687T>A (ADA) | ENSP00000512366.1:p.Ala229= | |
| ENST00000696064.1:c.459T>A (ADA) | ENSP00000512367.1:p.Ala153= | |
| ENST00000696065.1:c.66-143T>A (ADA) | ENSP00000512368.1:n.66-143T>A | |
| ENST00000696073.1:n.847T>A (ADA) | ||
| ENST00000696074.1:n.228T>A (ADA) | ||
| ENST00000696075.1:c.*582T>A (ADA) | ENSP00000512374.1:n.*582T>A | |
| ENST00000696076.1:c.681T>A (ADA) | ENSP00000512375.1:p.Ala227= | |
| ENST00000696077.1:c.606T>A (ADA) | ENSP00000512376.1:p.Ala202= | |
| ENST00000696078.1:c.609T>A (ADA) | ENSP00000512377.1:p.Ala203= | |
| ENST00000696079.1:c.609T>A (ADA) | ENSP00000512378.1:p.Ala203= | |
| ENST00000696080.1:c.612T>A (ADA) | ENSP00000512379.1:p.Ala204= | |
| ENST00000696081.1:n.731T>A (ADA) | ||
| ENST00000696082.1:c.687T>A (ADA) | ENSP00000512380.1:p.Ala229= | |
| ENST00000696083.1:n.1493T>A (ADA) | ||
| ENST00000696084.1:n.713T>A (ADA) | ||
| ENST00000696104.1:c.363-143T>A (ADA) | ENSP00000512399.1:n.363-143T>A | |
| ENST00000696105.1:c.*153T>A (ADA) | ENSP00000512400.1:n.*153T>A | |
| ENST00000372874.9:c.612T>A (ADA) MANE Select | ENSP00000361965.4:p.Ala204= | |
| ENST00000372874.8:c.612T>A (ADA) | ENSP00000361965.4:p.Ala204= | |
| ENST00000372887.5:c.152-860A>T (PKIG) | ENSP00000361978.1:n.152-860A>T | |
| ENST00000464097.5:n.286T>A (ADA) | ||
| ENST00000492931.5:n.696T>A (ADA) | ||
| ENST00000536532.5:c.612T>A (ADA) | ENSP00000440946.1:p.Ala204= | |
| ENST00000537820.1:c.607-143T>A (ADA) | ENSP00000441818.1:n.607-143T>A | |
| ENST00000539235.5:c.224T>A (ADA) | ENSP00000446464.1:p.Leu75Gln | |
| NM_000022.2:c.612T>A , LRG_16t1:c.612T>A (ADA) | NP_000013.2:p.Ala204= | |
| XM_005260236.2:c.607-143T>A (ADA) | XP_005260293.1:n.607-143T>A | |
| XM_011528478.1:c.207T>A (ADA) | XP_011526780.1:p.Ala69= | |
| XM_011528479.1:c.207T>A (ADA) | XP_011526781.1:p.Ala69= | |
| XR_244129.1:n.666T>A (ADA) | ||
| NM_000022.3:c.612T>A (ADA) | NP_000013.2:p.Ala204= | |
| NM_001322050.1:c.207T>A (ADA) | NP_001308979.1:p.Ala69= | |
| NM_001322051.1:c.607-143T>A (ADA) | NP_001308980.1:n.607-143T>A | |
| NR_136160.1:n.763T>A (ADA) | ||
| NM_000022.4:c.612T>A (ADA) MANE Select | NP_000013.2:p.Ala204= | |
| NM_001322050.2:c.207T>A (ADA) | NP_001308979.1:p.Ala69= | |
| NM_001322051.2:c.607-143T>A (ADA) | NP_001308980.1:n.607-143T>A | |
| NR_136160.2:n.704T>A (ADA) |