This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier:
Get Identifier
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.[81511455C>A;81511457A>T;81511464G>C;81511468G>T;81511472T>C] , CM000679.2:g.[81511455C>A;81511457A>T;81511464G>C;81511468G>T;81511472T>C] | GRCh38 |
| NC_000017.10:g.[79478481C>A;79478483A>T;79478490G>C;79478494G>T;79478498T>C] , CM000679.1:g.[79478481C>A;79478483A>T;79478490G>C;79478494G>T;79478498T>C] | GRCh37 |
| NC_000017.9:g.[77093076C>A;77093078A>T;77093085G>C;77093089G>T;77093093T>C] | NCBI36 |
| NG_011433.1:g.[6330A>G;6334C>A;6338C>G;6345T>A;6347G>T] |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570382.2:c.[518A>G;522C>A;526C>G;533T>A;535G>T] | ENSP00000466346.2:p.[His173Arg;Ala174=;Leu176Val;Leu178_Asp17... | |
| ENST00000571691.6:c.[446A>G;450C>A;454C>G;461T>A;463G>T] | ENSP00000461407.2:p.[His149Arg;Ala150=;Leu152Val;Leu154_Asp15... | |
| ENST00000571721.6:c.[518A>G;522C>A;526C>G;533T>A;535G>T] | ENSP00000460660.2:p.[His173Arg;Ala174=;Leu176Val;Leu178_Asp17... | |
| ENST00000572105.7:c.[559A>G;563C>A;567C>G;574T>A;576G>T] | ENSP00000462823.1:p.[Thr187Ala;Pro188Gln;Ser189=;Trp192Ser] | |
| ENST00000573283.7:c.[518A>G;522C>A;526C>G;533T>A;535G>T] MANE Select | ENSP00000458435.1:p.[His173Arg;Ala174=;Leu176Val;Leu178_Asp17... | |
| ENST00000574671.6:n.[918A>G;922C>A;926C>G;933T>A;935G>T] | ||
| ENST00000575659.6:c.[518A>G;522C>A;526C>G;533T>A;535G>T] | ENSP00000459119.2:p.[His173Arg;Ala174=;Leu176Val;Leu178Gln;As... | |
| ENST00000575994.6:c.[518A>G;522C>A;526C>G;533T>A;535G>T] | ENSP00000460464.2:p.[His173Arg;Ala174=;Leu176Val;Leu178Gln;As... | |
| ENST00000576214.3:n.[819A>G;823C>A;827C>G;834T>A;836G>T] | ||
| ENST00000576544.6:c.[518A>G;522C>A;526C>G;533T>A;535G>T] | ENSP00000461672.1:p.[His173Arg;Ala174=;Leu176Val;Leu178Gln;As... | |
| ENST00000615544.5:c.[518A>G;522C>A;526C>G;533T>A;535G>T] | ENSP00000477968.1:p.[His173Arg;Ala174=;Leu176Val;Leu178Gln;As... | |
| ENST00000644774.2:c.[491A>G;495C>A;499C>G;506T>A;508G>T] | ENSP00000493648.2:p.[His164Arg;Ala165=;Leu167Val;Leu169_Asp17... | |
| ENST00000679410.1:n.[642A>G;646C>A;650C>G;657T>A;659G>T] | ||
| ENST00000679480.1:c.[518A>G;522C>A;526C>G;533T>A;535G>T] | ENSP00000506201.1:p.[His173Arg;Ala174=;Leu176Val;Leu178Gln;As... | |
| ENST00000679535.1:n.[819A>G;823C>A;827C>G;834T>A;836G>T] | ||
| ENST00000679778.1:c.[518A>G;522C>A;526C>G;533T>A;535G>T] | ENSP00000505235.1:p.[His173Arg;Ala174=;Leu176Val;Leu178Gln;As... | |
| ENST00000680227.1:c.[518A>G;522C>A;526C>G;533T>A;535G>T] | ENSP00000506253.1:p.[His173Arg;Ala174=;Leu176Val;Leu178_Asp17... | |
| ENST00000680727.1:c.[518A>G;522C>A;526C>G;533T>A;535G>T] | ENSP00000505193.1:p.[His173Arg;Ala174=;Leu176Val;Leu178_Asp17... | |
| ENST00000681052.1:c.[518A>G;522C>A;526C>G;533T>A;535G>T] | ENSP00000505060.1:p.[His173Arg;Ala174=;Leu176Val;Leu178Gln;As... | |
| ENST00000681092.1:c.[*322A>G;*326C>A;*330C>G;*337T>A;*339G>T] | ENSP00000506720.1:n.[*322A>G;*326C>A;*330C>G;*337T>A;*339G>T]... | |
| ENST00000681842.1:c.[518A>G;522C>A;526C>G;533T>A;535G>T] | ENSP00000506126.1:p.[His173Arg;Ala174=;Leu176Val;Leu178_Asp17... | |
| ENST00000331925.6:c.[518A>G;522C>A;526C>G;533T>A;535G>T] | ENSP00000331514.2:p.[His173Arg;Ala174=;Leu176Val;Leu178_Asp17... | |
| ENST00000571691.5:c.[491A>G;495C>A;499C>G;506T>A;508G>T] | ENSP00000461407.1:p.[His164Arg;Ala165=;Leu167Val;Leu169_Asp17... | |
| ENST00000572105.6:c.[559A>G;563C>A;567C>G;574T>A;576G>T] | ENSP00000462823.1:p.[Thr187Ala;Pro188Gln;Ser189=;Trp192Arg;Tr... | |
| ENST00000573283.5:c.[518A>G;522C>A;526C>G;533T>A;535G>T] | ENSP00000458435.1:p.[His173Arg;Ala174=;Leu176Val;Leu178Gln;As... | |
| ENST00000574671.5:n.[377A>G;381C>A;385C>G;392T>A;394G>T] | ||
| ENST00000575087.5:c.[518A>G;522C>A;526C>G;533T>A;535G>T] | ENSP00000459124.1:p.[His173Arg;Ala174=;Leu176Val;Leu178Gln;As... | |
| ENST00000575659.5:c.[518A>G;522C>A;526C>G;533T>A;535G>T] | ENSP00000459119.1:p.[His173Arg;Ala174=;Leu176Val;Leu178Gln;As... | |
| ENST00000575842.5:c.[518A>G;522C>A;526C>G;533T>A;535G>T] | ENSP00000458162.1:p.[His173Arg;Ala174=;Leu176Val;Leu178Gln;As... | |
| ENST00000575994.5:c.[518A>G;522C>A;526C>G;533T>A;535G>T] | ENSP00000460464.1:p.[His173Arg;Ala174=;Leu176Val;Leu178Gln;As... | |
| ENST00000576209.5:n.[403A>G;407C>A;411C>G;418T>A;420G>T] | ||
| ENST00000576214.2:n.[716A>G;720C>A;724C>G;731T>A;733G>T] | ||
| ENST00000576544.5:c.[518A>G;522C>A;526C>G;533T>A;535G>T] | ENSP00000461672.1:p.[His173Arg;Ala174=;Leu176Val;Leu178Gln;As... | |
| ENST00000576917.5:n.[571A>G;575C>A;579C>G;586T>A;588G>T] | ||
| ENST00000615544.4:c.[518A>G;522C>A;526C>G;533T>A;535G>T] | ENSP00000477968.1:p.[His173Arg;Ala174=;Leu176Val;Leu178Gln;As... | |
| NM_001199954.1:c.[518A>G;522C>A;526C>G;533T>A;535G>T] | NP_001186883.1:p.[His173Arg;Ala174=;Leu176Val;Leu178_Asp179de... | |
| NM_001614.3:c.[518A>G;522C>A;526C>G;533T>A;535G>T] | NP_001605.1:p.[His173Arg;Ala174=;Leu176Val;Leu178Gln;Asp179Ty... | |
| NR_037688.1:n.[657A>G;661C>A;665C>G;672T>A;674G>T] | ||
| NM_001199954.2:c.[518A>G;522C>A;526C>G;533T>A;535G>T] | NP_001186883.1:p.[His173Arg;Ala174=;Leu176Val;Leu178Gln;Asp17... | |
| NM_001614.4:c.[518A>G;522C>A;526C>G;533T>A;535G>T] | NP_001605.1:p.[His173Arg;Ala174=;Leu176Val;Leu178_Asp179delin... | |
| NR_037688.2:n.[590A>G;594C>A;598C>G;605T>A;607G>T] | ||
| NM_001614.5:c.[518A>G;522C>A;526C>G;533T>A;535G>T] MANE Select | NP_001605.1:p.[His173Arg;Ala174=;Leu176Val;Leu178_Asp179delin... | |
| NR_037688.3:n.[590A>G;594C>A;598C>G;605T>A;607G>T] | ||
| NM_001199954.3:c.[518A>G;522C>A;526C>G;533T>A;535G>T] | NP_001186883.1:p.[His173Arg;Ala174=;Leu176Val;Leu178Gln;Asp17... |