Canonical Allele Identifier: CA2365855913

Linked Data

dbSNP Id: rs1600919424

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44622969C>G , CM000682.2:g.44622969C>G GRCh38
NC_000020.10:g.43251610C>G , CM000682.1:g.43251610C>G GRCh37
NC_000020.9:g.42685024C>G NCBI36
NG_007385.1:g.33767G>C , LRG_16:g.33767G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000492931.6:n.807G>C (ADA)
ENST00000536076.2:c.526-39G>C (ADA) ENSP00000512234.1:n.526-39G>C
ENST00000536532.6:c.679-39G>C (ADA) ENSP00000440946.1:n.679-39G>C
ENST00000537820.2:c.607-39G>C (ADA) ENSP00000441818.1:n.607-39G>C
ENST00000539235.6:c.*63-39G>C (ADA) ENSP00000446464.1:n.*63-39G>C
ENST00000695889.1:c.219-39G>C (ADA) ENSP00000512240.1:n.219-39G>C
ENST00000695890.1:n.2519G>C (ADA)
ENST00000695891.1:c.219-39G>C (ADA) ENSP00000512241.1:n.219-39G>C
ENST00000695927.1:c.757-39G>C (ADA) ENSP00000512270.1:n.757-39G>C
ENST00000695949.1:c.604-39G>C (ADA) ENSP00000512281.1:n.604-39G>C
ENST00000695957.1:c.*170-39G>C (ADA) ENSP00000512286.1:n.*170-39G>C
ENST00000695991.1:c.217-39G>C (ADA) ENSP00000512314.1:n.217-39G>C
ENST00000695992.1:c.679-39G>C (ADA) ENSP00000512315.1:n.679-39G>C
ENST00000695993.1:c.679-39G>C (ADA) ENSP00000512316.1:n.679-39G>C
ENST00000695994.1:c.652-39G>C (ADA) ENSP00000512317.1:n.652-39G>C
ENST00000695995.1:c.289-39G>C (ADA) ENSP00000512318.1:n.289-39G>C
ENST00000695996.1:n.787G>C (ADA)
ENST00000696003.1:n.808G>C (ADA)
ENST00000696004.1:n.808G>C (ADA)
ENST00000696005.1:c.129-39G>C (ADA)
ENST00000696006.1:c.607-39G>C (ADA) ENSP00000512325.1:n.607-39G>C
ENST00000696007.1:c.567G>C (ADA) ENSP00000512326.1:n.567G>C
ENST00000696008.1:n.2994G>C (ADA)
ENST00000696017.1:c.676-39G>C (ADA) ENSP00000512333.1:n.676-39G>C
ENST00000696034.1:c.679-39G>C (ADA) ENSP00000512343.1:n.679-39G>C
ENST00000696035.1:n.826G>C (ADA)
ENST00000696036.1:n.1406G>C (ADA)
ENST00000696037.1:n.2356-39G>C (ADA)
ENST00000696038.1:c.*462G>C (ADA) ENSP00000512344.1:n.*462G>C
ENST00000696039.1:n.1004G>C (ADA)
ENST00000696058.1:c.676-39G>C (ADA) ENSP00000512361.1:n.676-39G>C
ENST00000696059.1:c.*624-39G>C (ADA) ENSP00000512362.1:n.*624-39G>C
ENST00000696060.1:c.748-39G>C (ADA) ENSP00000512363.1:n.748-39G>C
ENST00000696061.1:c.676-39G>C (ADA) ENSP00000512364.1:n.676-39G>C
ENST00000696062.1:c.742-39G>C (ADA) ENSP00000512365.1:n.742-39G>C
ENST00000696063.1:c.754-39G>C (ADA) ENSP00000512366.1:n.754-39G>C
ENST00000696064.1:c.526-39G>C (ADA) ENSP00000512367.1:n.526-39G>C
ENST00000696065.1:c.66-39G>C (ADA) ENSP00000512368.1:n.66-39G>C
ENST00000696073.1:n.951G>C (ADA)
ENST00000696074.1:n.295-39G>C (ADA)
ENST00000696075.1:c.*649-39G>C (ADA) ENSP00000512374.1:n.*649-39G>C
ENST00000696076.1:c.748-39G>C (ADA) ENSP00000512375.1:n.748-39G>C
ENST00000696077.1:c.673-39G>C (ADA) ENSP00000512376.1:n.673-39G>C
ENST00000696078.1:c.676-39G>C (ADA) ENSP00000512377.1:n.676-39G>C
ENST00000696079.1:c.676-39G>C (ADA) ENSP00000512378.1:n.676-39G>C
ENST00000696080.1:c.679-39G>C (ADA) ENSP00000512379.1:n.679-39G>C
ENST00000696081.1:n.798-39G>C (ADA)
ENST00000696082.1:c.754-39G>C (ADA) ENSP00000512380.1:n.754-39G>C
ENST00000696083.1:n.1597G>C (ADA)
ENST00000696084.1:n.817G>C (ADA)
ENST00000696104.1:c.363-39G>C (ADA) ENSP00000512399.1:n.363-39G>C
ENST00000372874.9:c.679-39G>C (ADA) MANE Select ENSP00000361965.4:n.679-39G>C
ENST00000372874.8:c.679-39G>C (ADA) ENSP00000361965.4:n.679-39G>C
ENST00000372887.5:c.152-964C>G (PKIG) ENSP00000361978.1:n.152-964C>G
ENST00000464097.5:n.390G>C (ADA)
ENST00000492931.5:n.800G>C (ADA)
ENST00000536532.5:c.679-39G>C (ADA) ENSP00000440946.1:n.679-39G>C
ENST00000537820.1:c.607-39G>C (ADA) ENSP00000441818.1:n.607-39G>C
ENST00000539235.5:c.*63-39G>C (ADA) ENSP00000446464.1:n.*63-39G>C
NM_000022.2:c.679-39G>C , LRG_16t1:c.679-39G>C (ADA) NP_000013.2:n.679-39G>C
XM_005260236.2:c.607-39G>C (ADA) XP_005260293.1:n.607-39G>C
XM_011528478.1:c.274-39G>C (ADA) XP_011526780.1:n.274-39G>C
XM_011528479.1:c.274-39G>C (ADA) XP_011526781.1:n.274-39G>C
XR_244129.1:n.733-39G>C (ADA)
NM_000022.3:c.679-39G>C (ADA) NP_000013.2:n.679-39G>C
NM_001322050.1:c.274-39G>C (ADA) NP_001308979.1:n.274-39G>C
NM_001322051.1:c.607-39G>C (ADA) NP_001308980.1:n.607-39G>C
NR_136160.1:n.830-39G>C (ADA)
NM_000022.4:c.679-39G>C (ADA) MANE Select NP_000013.2:n.679-39G>C
NM_001322050.2:c.274-39G>C (ADA) NP_001308979.1:n.274-39G>C
NM_001322051.2:c.607-39G>C (ADA) NP_001308980.1:n.607-39G>C
NR_136160.2:n.771-39G>C (ADA)