Canonical Allele Identifier: CA409120739

Linked Data

ClinVar Variation Id: 1406981
ClinVar RCV Id: RCV001937685
dbSNP Id: rs1555844395

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44624205G>T , CM000682.2:g.44624205G>T GRCh38
NC_000020.10:g.43252846G>T , CM000682.1:g.43252846G>T GRCh37
NC_000020.9:g.42686260G>T NCBI36
NG_007385.1:g.32531C>A , LRG_16:g.32531C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000492931.6:n.694C>A (ADA)
ENST00000536076.2:c.450C>A (ADA) ENSP00000512234.1:p.Tyr150Ter
ENST00000536532.6:c.603C>A (ADA) ENSP00000440946.1:p.Tyr201Ter
ENST00000537820.2:c.603C>A (ADA) ENSP00000441818.1:p.Tyr201Ter
ENST00000539235.6:c.219-1127C>A (ADA) ENSP00000446464.1:n.219-1127C>A
ENST00000695889.1:c.219-1275C>A (ADA) ENSP00000512240.1:n.219-1275C>A
ENST00000695890.1:n.2406C>A (ADA)
ENST00000695891.1:c.219-1275C>A (ADA) ENSP00000512241.1:n.219-1275C>A
ENST00000695927.1:c.681C>A (ADA) ENSP00000512270.1:p.Tyr227Ter
ENST00000695949.1:c.600C>A (ADA) ENSP00000512281.1:p.Tyr200Ter
ENST00000695957.1:c.*94C>A (ADA) ENSP00000512286.1:n.*94C>A
ENST00000695991.1:c.217-1275C>A (ADA) ENSP00000512314.1:n.217-1275C>A
ENST00000695992.1:c.603C>A (ADA) ENSP00000512315.1:p.Tyr201Ter
ENST00000695993.1:c.603C>A (ADA) ENSP00000512316.1:p.Tyr201Ter
ENST00000695994.1:c.603C>A (ADA) ENSP00000512317.1:p.Tyr201Ter
ENST00000695995.1:c.217-1127C>A (ADA) ENSP00000512318.1:n.217-1127C>A
ENST00000695996.1:n.674C>A (ADA)
ENST00000695997.1:n.558C>A (ADA)
ENST00000696003.1:n.695C>A (ADA)
ENST00000696004.1:n.695C>A (ADA)
ENST00000696005.1:c.125C>A (ADA)
ENST00000696006.1:c.603C>A (ADA) ENSP00000512325.1:p.Tyr201Ter
ENST00000696007.1:c.454C>A (ADA) ENSP00000512326.1:n.454C>A
ENST00000696008.1:n.1758C>A (ADA)
ENST00000696009.1:n.1953C>A (ADA)
ENST00000696017.1:c.600C>A (ADA) ENSP00000512333.1:p.Tyr200Ter
ENST00000696034.1:c.603C>A (ADA) ENSP00000512343.1:p.Tyr201Ter
ENST00000696035.1:n.713C>A (ADA)
ENST00000696036.1:n.1293C>A (ADA)
ENST00000696037.1:n.2280C>A (ADA)
ENST00000696038.1:c.*349C>A (ADA) ENSP00000512344.1:n.*349C>A
ENST00000696039.1:n.891C>A (ADA)
ENST00000696058.1:c.603C>A (ADA) ENSP00000512361.1:p.Tyr201Ter
ENST00000696059.1:c.*548C>A (ADA) ENSP00000512362.1:n.*548C>A
ENST00000696060.1:c.603C>A (ADA) ENSP00000512363.1:p.Tyr201Ter
ENST00000696061.1:c.600C>A (ADA) ENSP00000512364.1:p.Tyr200Ter
ENST00000696062.1:c.666C>A (ADA) ENSP00000512365.1:p.Tyr222Ter
ENST00000696063.1:c.678C>A (ADA) ENSP00000512366.1:p.Tyr226Ter
ENST00000696064.1:c.450C>A (ADA) ENSP00000512367.1:p.Tyr150Ter
ENST00000696065.1:c.66-1275C>A (ADA) ENSP00000512368.1:n.66-1275C>A
ENST00000696074.1:n.219C>A (ADA)
ENST00000696075.1:c.*573C>A (ADA) ENSP00000512374.1:n.*573C>A
ENST00000696076.1:c.603C>A (ADA) ENSP00000512375.1:p.Tyr201Ter
ENST00000696077.1:c.600C>A (ADA) ENSP00000512376.1:p.Tyr200Ter
ENST00000696078.1:c.603C>A (ADA) ENSP00000512377.1:p.Tyr201Ter
ENST00000696079.1:c.603C>A (ADA) ENSP00000512378.1:p.Tyr201Ter
ENST00000696080.1:c.603C>A (ADA) ENSP00000512379.1:p.Tyr201Ter
ENST00000696081.1:n.722C>A (ADA)
ENST00000696082.1:c.681C>A (ADA) ENSP00000512380.1:p.Tyr227Ter
ENST00000696083.1:n.1484C>A (ADA)
ENST00000696084.1:n.704C>A (ADA)
ENST00000696104.1:c.363-1275C>A (ADA) ENSP00000512399.1:n.363-1275C>A
ENST00000696105.1:c.*144C>A (ADA) ENSP00000512400.1:n.*144C>A
ENST00000372874.9:c.603C>A (ADA) MANE Select ENSP00000361965.4:p.Tyr201Ter
ENST00000372874.8:c.603C>A (ADA) ENSP00000361965.4:p.Tyr201Ter
ENST00000372887.5:c.*229G>T (PKIG) ENSP00000361978.1:n.*229G>T
ENST00000464097.5:n.277C>A (ADA)
ENST00000492931.5:n.687C>A (ADA)
ENST00000536532.5:c.603C>A (ADA) ENSP00000440946.1:p.Tyr201Ter
ENST00000537820.1:c.603C>A (ADA) ENSP00000441818.1:p.Tyr201Ter
ENST00000539235.5:c.219-1127C>A (ADA) ENSP00000446464.1:n.219-1127C>A
NM_000022.2:c.603C>A , LRG_16t1:c.603C>A (ADA) NP_000013.2:p.Tyr201Ter
XM_005260236.2:c.603C>A (ADA) XP_005260293.1:p.Tyr201Ter
XM_011528478.1:c.198C>A (ADA) XP_011526780.1:p.Tyr66Ter
XM_011528479.1:c.198C>A (ADA) XP_011526781.1:p.Tyr66Ter
XR_244129.1:n.657C>A (ADA)
NM_000022.3:c.603C>A (ADA) NP_000013.2:p.Tyr201Ter
NM_001322050.1:c.198C>A (ADA) NP_001308979.1:p.Tyr66Ter
NM_001322051.1:c.603C>A (ADA) NP_001308980.1:p.Tyr201Ter
NR_136160.1:n.754C>A (ADA)
NM_000022.4:c.603C>A (ADA) MANE Select NP_000013.2:p.Tyr201Ter
NM_001322050.2:c.198C>A (ADA) NP_001308979.1:p.Tyr66Ter
NM_001322051.2:c.603C>A (ADA) NP_001308980.1:p.Tyr201Ter
NR_136160.2:n.695C>A (ADA)