This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier:
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Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.[81511495G>T;81511497T>A;81511504C>T;81511508T>C] , CM000679.2:g.[81511495G>T;81511497T>A;81511504C>T;81511508T>C] | GRCh38 |
| NC_000017.10:g.[79478521G>T;79478523T>A;79478530C>T;79478534T>C] , CM000679.1:g.[79478521G>T;79478523T>A;79478530C>T;79478534T>C] | GRCh37 |
| NC_000017.9:g.[77093116G>T;77093118T>A;77093125C>T;77093129T>C] | NCBI36 |
| NG_011433.1:g.[6294A>G;6298G>A;6305A>T;6307C>A] |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570382.2:c.[482A>G;486G>A;493A>T;495C>A] | ENSP00000466346.2:p.[His161Arg;Thr162=;Ile165Phe;Ile165=] | |
| ENST00000571691.6:c.[410A>G;414G>A;421A>T;423C>A] | ENSP00000461407.2:p.[His137Arg;Thr138=;Ile141Phe;Ile141=] | |
| ENST00000571721.6:c.[482A>G;486G>A;493A>T;495C>A] | ENSP00000460660.2:p.[His161Arg;Thr162=;Ile165Phe;Ile165=] | |
| ENST00000572105.7:c.[523A>G;527G>A;534A>T;536C>A] | ENSP00000462823.1:p.[Thr175Ala;Arg176Gln;Pro178=;Ser179Tyr] | |
| ENST00000573283.7:c.[482A>G;486G>A;493A>T;495C>A] MANE Select | ENSP00000458435.1:p.[His161Arg;Thr162=;Ile165Phe;Ile165=] | |
| ENST00000574671.6:n.[882A>G;886G>A;893A>T;895C>A] | ||
| ENST00000575659.6:c.[482A>G;486G>A;493A>T;495C>A] | ENSP00000459119.2:p.[His161Arg;Thr162=;Ile165Ser] | |
| ENST00000575994.6:c.[482A>G;486G>A;493A>T;495C>A] | ENSP00000460464.2:p.[His161Arg;Thr162=;Ile165Phe;Ile165=] | |
| ENST00000576214.3:n.[783A>G;787G>A;794A>T;796C>A] | ||
| ENST00000576544.6:c.[482A>G;486G>A;493A>T;495C>A] | ENSP00000461672.1:p.[His161Arg;Thr162=;Ile165Ser] | |
| ENST00000615544.5:c.[482A>G;486G>A;493A>T;495C>A] | ENSP00000477968.1:p.[His161Arg;Thr162=;Ile165Phe;Ile165=] | |
| ENST00000644774.2:c.[455A>G;459G>A;466A>T;468C>A] | ENSP00000493648.2:p.[His152Arg;Thr153=;Ile156Phe;Ile156=] | |
| ENST00000679410.1:n.[606A>G;610G>A;617A>T;619C>A] | ||
| ENST00000679480.1:c.[482A>G;486G>A;493A>T;495C>A] | ENSP00000506201.1:p.[His161Arg;Thr162=;Ile165Phe;Ile165=] | |
| ENST00000679535.1:n.[783A>G;787G>A;794A>T;796C>A] | ||
| ENST00000679778.1:c.[482A>G;486G>A;493A>T;495C>A] | ENSP00000505235.1:p.[His161Arg;Thr162=;Ile165Ser] | |
| ENST00000680227.1:c.[482A>G;486G>A;493A>T;495C>A] | ENSP00000506253.1:p.[His161Arg;Thr162=;Ile165Phe;Ile165=] | |
| ENST00000680727.1:c.[482A>G;486G>A;493A>T;495C>A] | ENSP00000505193.1:p.[His161Arg;Thr162=;Ile165Phe;Ile165=] | |
| ENST00000681052.1:c.[482A>G;486G>A;493A>T;495C>A] | ENSP00000505060.1:p.[His161Arg;Thr162=;Ile165Phe;Ile165=] | |
| ENST00000681092.1:c.[*286A>G;*290G>A;*297A>T;*299C>A] | ENSP00000506720.1:n.[*286A>G;*290G>A;*297A>T;*299C>A] | |
| ENST00000681842.1:c.[482A>G;486G>A;493A>T;495C>A] | ENSP00000506126.1:p.[His161Arg;Thr162=;Ile165Phe;Ile165=] | |
| ENST00000331925.6:c.[482A>G;486G>A;493A>T;495C>A] | ENSP00000331514.2:p.[His161Arg;Thr162=;Ile165Phe;Ile165=] | |
| ENST00000571691.5:c.[455A>G;459G>A;466A>T;468C>A] | ENSP00000461407.1:p.[His152Arg;Thr153=;Ile156Phe;Ile156=] | |
| ENST00000572105.6:c.[523A>G;527G>A;534A>T;536C>A] | ENSP00000462823.1:p.[Thr175Ala;Arg176Gln;Pro178=;Ser179Tyr] | |
| ENST00000573283.5:c.[482A>G;486G>A;493A>T;495C>A] | ENSP00000458435.1:p.[His161Arg;Thr162=;Ile165Ter] | |
| ENST00000574671.5:n.[341A>G;345G>A;352A>T;354C>A] | ||
| ENST00000575087.5:c.[482A>G;486G>A;493A>T;495C>A] | ENSP00000459124.1:p.[His161Arg;Thr162=;Ile165Phe;Ile165=] | |
| ENST00000575659.5:c.[482A>G;486G>A;493A>T;495C>A] | ENSP00000459119.1:p.[His161Arg;Thr162=;Ile165Ser] | |
| ENST00000575842.5:c.[482A>G;486G>A;493A>T;495C>A] | ENSP00000458162.1:p.[His161Arg;Thr162=;Ile165Ser] | |
| ENST00000575994.5:c.[482A>G;486G>A;493A>T;495C>A] | ENSP00000460464.1:p.[His161Arg;Thr162=;Ile165Phe;Ile165=] | |
| ENST00000576209.5:n.[367A>G;371G>A;378A>T;380C>A] | ||
| ENST00000576214.2:n.[680A>G;684G>A;691A>T;693C>A] | ||
| ENST00000576544.5:c.[482A>G;486G>A;493A>T;495C>A] | ENSP00000461672.1:p.[His161Arg;Thr162=;Ile165Ser] | |
| ENST00000576917.5:n.[535A>G;539G>A;546A>T;548C>A] | ||
| ENST00000615544.4:c.[482A>G;486G>A;493A>T;495C>A] | ENSP00000477968.1:p.[His161Arg;Thr162=;Ile165Ser] | |
| NM_001199954.1:c.[482A>G;486G>A;493A>T;495C>A] | NP_001186883.1:p.[His161Arg;Thr162=;Ile165Phe;Ile165=] | |
| NM_001614.3:c.[482A>G;486G>A;493A>T;495C>A] | NP_001605.1:p.[His161Arg;Thr162=;Ile165Ser] | |
| NR_037688.1:n.[621A>G;625G>A;632A>T;634C>A] | ||
| NM_001199954.2:c.[482A>G;486G>A;493A>T;495C>A] | NP_001186883.1:p.[His161Arg;Thr162=;Ile165Phe;Ile165=] | |
| NM_001614.4:c.[482A>G;486G>A;493A>T;495C>A] | NP_001605.1:p.[His161Arg;Thr162=;Ile165Phe;Ile165=] | |
| NR_037688.2:n.[554A>G;558G>A;565A>T;567C>A] | ||
| NM_001614.5:c.[482A>G;486G>A;493A>T;495C>A] MANE Select | NP_001605.1:p.[His161Arg;Thr162=;Ile165Phe;Ile165=] | |
| NR_037688.3:n.[554A>G;558G>A;565A>T;567C>A] | ||
| NM_001199954.3:c.[482A>G;486G>A;493A>T;495C>A] | NP_001186883.1:p.[His161Arg;Thr162=;Ile165Phe;Ile165=] |