Canonical Allele Identifier: CA2365855720

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44622612G= , CM000682.2:g.44622612G= GRCh38
NC_000020.10:g.43251253G= , CM000682.1:g.43251253G= GRCh37
NC_000020.9:g.42684667G= NCBI36
NG_007385.1:g.34124C= , LRG_16:g.34124C=

Transcript Alleles

HGVS Amino-acid Change
NM_000022.4:c.821C= (ADA) MANE Select NP_000013.2:p.Pro274=
ENST00000372874.9:c.821C= (ADA) MANE Select ENSP00000361965.4:p.Pro274=
NM_000022.2:c.821C= , LRG_16t1:c.821C= (ADA) NP_000013.2:p.Pro274=
NM_000022.3:c.821C= (ADA) NP_000013.2:p.Pro274=
NM_001322050.1:c.416C= (ADA) NP_001308979.1:p.Pro139=
NM_001322050.2:c.416C= (ADA) NP_001308979.1:p.Pro139=
NM_001322051.1:c.749C= (ADA) NP_001308980.1:p.Pro250=
NM_001322051.2:c.749C= (ADA) NP_001308980.1:p.Pro250=
NR_136160.1:n.931+217C= (ADA)
NR_136160.2:n.872+217C= (ADA)
ENST00000372874.8:c.821C= (ADA) ENSP00000361965.4:p.Pro274=
ENST00000372887.5:c.152-1321G= (PKIG) ENSP00000361978.1:n.152-1321G=
ENST00000464097.5:n.571C= (ADA)
ENST00000492931.5:n.981C= (ADA)
ENST00000492931.6:n.988C= (ADA)
ENST00000536076.2:c.668C= (ADA) ENSP00000512234.1:p.Pro223=
ENST00000536532.5:c.780+217C= (ADA) ENSP00000440946.1:n.780+217C=
ENST00000536532.6:c.780+217C= (ADA) ENSP00000440946.1:n.780+217C=
ENST00000537820.1:c.749C= (ADA) ENSP00000441818.1:p.Pro250=
ENST00000537820.2:c.749C= (ADA) ENSP00000441818.1:p.Pro250=
ENST00000539235.5:c.*205C= (ADA) ENSP00000446464.1:n.*205C=
ENST00000539235.6:c.*205C= (ADA) ENSP00000446464.1:n.*205C=
ENST00000695889.1:c.320+217C= (ADA) ENSP00000512240.1:n.320+217C=
ENST00000695890.1:n.2876C= (ADA)
ENST00000695891.1:c.361C= (ADA) ENSP00000512241.1:p.Arg121=
ENST00000695927.1:c.899C= (ADA) ENSP00000512270.1:p.Pro300=
ENST00000695949.1:c.746C= (ADA) ENSP00000512281.1:p.Pro249=
ENST00000695957.1:c.*312C= (ADA) ENSP00000512286.1:n.*312C=
ENST00000695991.1:c.359C= (ADA) ENSP00000512314.1:p.Pro120=
ENST00000695992.1:c.780+217C= (ADA) ENSP00000512315.1:n.780+217C=
ENST00000695993.1:c.821C= (ADA) ENSP00000512316.1:p.Pro274=
ENST00000695994.1:c.753+217C= (ADA) ENSP00000512317.1:n.753+217C=
ENST00000695995.1:c.431C= (ADA) ENSP00000512318.1:p.Pro144=
ENST00000695996.1:n.927+217C= (ADA)
ENST00000696003.1:n.1165C= (ADA)
ENST00000696004.1:n.989C= (ADA)
ENST00000696005.1:c.271C= (ADA)
ENST00000696006.1:c.708+217C= (ADA) ENSP00000512325.1:n.708+217C=
ENST00000696007.1:c.748C= (ADA) ENSP00000512326.1:n.748C=
ENST00000696008.1:n.3175C= (ADA)
ENST00000696017.1:c.818C= (ADA) ENSP00000512333.1:p.Pro273=
ENST00000696034.1:c.780+217C= (ADA) ENSP00000512343.1:n.780+217C=
ENST00000696035.1:n.1007C= (ADA)
ENST00000696036.1:n.1546+217C= (ADA)
ENST00000696037.1:n.2498C= (ADA)
ENST00000696038.1:c.*602+217C= (ADA) ENSP00000512344.1:n.*602+217C=
ENST00000696039.1:n.1185C= (ADA)
ENST00000696058.1:c.818C= (ADA) ENSP00000512361.1:p.Pro273=
ENST00000696059.1:c.*766C= (ADA) ENSP00000512362.1:n.*766C=
ENST00000696060.1:c.890C= (ADA) ENSP00000512363.1:p.Pro297=
ENST00000696061.1:c.818C= (ADA) ENSP00000512364.1:p.Pro273=
ENST00000696062.1:c.884C= (ADA) ENSP00000512365.1:p.Pro295=
ENST00000696063.1:c.896C= (ADA) ENSP00000512366.1:p.Pro299=
ENST00000696064.1:c.668C= (ADA) ENSP00000512367.1:p.Pro223=
ENST00000696065.1:c.167+217C= (ADA) ENSP00000512368.1:n.167+217C=
ENST00000696073.1:n.1132C= (ADA)
ENST00000696074.1:n.396+217C= (ADA)
ENST00000696075.1:c.*791C= (ADA) ENSP00000512374.1:n.*791C=
ENST00000696076.1:c.890C= (ADA) ENSP00000512375.1:p.Pro297=
ENST00000696077.1:c.815C= (ADA) ENSP00000512376.1:p.Pro272=
ENST00000696078.1:c.818C= (ADA) ENSP00000512377.1:p.Pro273=
ENST00000696079.1:c.818C= (ADA) ENSP00000512378.1:p.Pro273=
ENST00000696080.1:c.821C= (ADA) ENSP00000512379.1:p.Pro274=
ENST00000696081.1:n.940C= (ADA)
ENST00000696082.1:c.896C= (ADA) ENSP00000512380.1:p.Pro299=
ENST00000696083.1:n.1778C= (ADA)
ENST00000696084.1:n.998C= (ADA)
ENST00000696104.1:c.505C= (ADA) ENSP00000512399.1:p.Arg169=
XM_005260236.2:c.749C= (ADA) XP_005260293.1:p.Pro250=
XM_011528478.1:c.416C= (ADA) XP_011526780.1:p.Pro139=
XM_011528479.1:c.416C= (ADA) XP_011526781.1:p.Pro139=
XR_244129.1:n.834+217C= (ADA)