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_000005.10:g.[112767204G>A;112767284C>A;112767286T>A] , CM000667.2:g.[112767204G>A;112767284C>A;112767286T>A] | GRCh38 |
| NC_000005.9:g.[112102901G>A;112102981C>A;112102983T>A] , CM000667.1:g.[112102901G>A;112102981C>A;112102983T>A] | GRCh37 |
| NC_000005.8:g.[112130800G>A;112130880C>A;112130882T>A] | NCBI36 |
| NG_008481.4:g.[79684G>A;79764C>A;79766T>A] , LRG_130:g.[79684G>A;79764C>A;79766T>A] |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502371.3:c.[236G>A;316C>A;318T>A] | ENSP00000484935.2:p.[Ser79Asn;Arg106Ser;Arg106=] | |
| ENST00000504915.3:c.[236G>A;316C>A;318T>A] | ENSP00000473355.2:p.[Ser79Asn;Arg106Ser;Arg106=] | |
| ENST00000505084.2:n.[292G>A;372C>A;374T>A] | ||
| ENST00000505350.2:c.[*242G>A;*322C>A;*324T>A] | ENSP00000481752.1:n.[*242G>A;*322C>A;*324T>A] | |
| ENST00000507379.6:c.[266G>A;346C>A;348T>A] | ENSP00000423224.2:p.[Ser89Asn;Arg116Thr] | |
| ENST00000509732.6:c.[236G>A;316C>A;318T>A] | ENSP00000426541.2:p.[Ser79Asn;Arg106Ser;Arg106=] | |
| ENST00000512211.7:c.[236G>A;316C>A;318T>A] | ENSP00000423828.3:p.[Ser79Asn;Arg106Ser;Arg106=] | |
| ENST00000257430.9:c.[236G>A;316C>A;318T>A] MANE Select | ENSP00000257430.4:p.[Ser79Asn;Arg106Ser;Arg106=] | |
| ENST00000257430.8:c.[236G>A;316C>A;318T>A] | ENSP00000257430.4:p.[Ser79Asn;Arg106Ser;Arg106=] | |
| ENST00000507379.5:c.[266G>A;346C>A;348T>A] | ENSP00000423224.1:p.[Ser89Asn;Arg116Thr] | |
| ENST00000508376.6:c.[236G>A;316C>A;318T>A] | ENSP00000427089.2:p.[Ser79Asn;Arg106=] | |
| ENST00000508624.5:c.[236G>A;316C>A;318T>A] | ENSP00000424265.1:p.[Ser79Asn;Arg106Ser;Arg106=] | |
| ENST00000509732.5:c.[236G>A;316C>A;318T>A] | ENSP00000426541.1:p.[Ser79Asn;Arg106Ser;Arg106=] | |
| ENST00000512211.6:c.[236G>A;316C>A;318T>A] | ENSP00000423828.2:p.[Ser79Asn;Arg106Ser;Arg106=] | |
| NM_000038.5:c.[236G>A;316C>A;318T>A] | NP_000029.2:p.[Ser79Asn;Arg106Lys] | |
| NM_001127510.2:c.[236G>A;316C>A;318T>A] | NP_001120982.1:p.[Ser79Asn;Arg106=] | |
| NM_001127511.2:c.[266G>A;346C>A;348T>A] | NP_001120983.2:p.[Ser89Asn;Arg116Ser;Arg116=] | |
| NM_001354895.1:c.[236G>A;316C>A;318T>A] | NP_001341824.1:p.[Ser79Asn;Arg106Ser;Arg106=] | |
| NM_001354896.1:c.[236G>A;316C>A;318T>A] | NP_001341825.1:p.[Ser79Asn;Arg106Lys] | |
| NM_001354897.1:c.[266G>A;346C>A;348T>A] | NP_001341826.1:p.[Ser89Asn;Arg116Ser;Arg116=] | |
| NM_001354898.1:c.[161G>A;241C>A;243T>A] | NP_001341827.1:p.[Ser54Asn;Arg81Ile] | |
| NM_001354899.1:c.[236G>A;316C>A;318T>A] | NP_001341828.1:p.[Ser79Asn;Arg106Lys] | |
| NM_001354900.1:c.[59G>A;139C>A;141T>A] | NP_001341829.1:p.[Ser20Asn;Arg47Ile] | |
| NM_001354901.1:c.[59G>A;139C>A;141T>A] | NP_001341830.1:p.[Ser20Asn;Arg47Ile] | |
| NM_001354902.1:c.[266G>A;346C>A;348T>A] | NP_001341831.1:p.[Ser89Asn;Arg116Ser;Arg116=] | |
| NM_001354903.1:c.[236G>A;316C>A;318T>A] | NP_001341832.1:p.[Ser79Asn;Arg106Lys] | |
| NM_001354904.1:c.[161G>A;241C>A;243T>A] | NP_001341833.1:p.[Ser54Asn;Arg81Ile] | |
| NM_001354905.1:c.[59G>A;139C>A;141T>A] | NP_001341834.1:p.[Ser20Asn;Arg47Ile] | |
| NM_001354906.1:c.[-800G>A;-720C>A;-718T>A] | NP_001341835.1:n.[-800G>A;-720C>A;-718T>A] | |
| NM_000038.6:c.[236G>A;316C>A;318T>A] MANE Select | NP_000029.2:p.[Ser79Asn;Arg106Ser;Arg106=] | |
| NM_001127510.3:c.[236G>A;316C>A;318T>A] | NP_001120982.1:p.[Ser79Asn;Arg106Ser;Arg106=] | |
| NM_001127511.3:c.[266G>A;346C>A;348T>A] | NP_001120983.2:p.[Ser89Asn;Arg116Thr] | |
| NM_001354895.2:c.[236G>A;316C>A;318T>A] | NP_001341824.1:p.[Ser79Asn;Arg106Thr] | |
| NM_001354896.2:c.[236G>A;316C>A;318T>A] | NP_001341825.1:p.[Ser79Asn;Arg106Ser;Arg106=] | |
| NM_001354897.2:c.[266G>A;346C>A;348T>A] | NP_001341826.1:p.[Ser89Asn;Arg116Thr] | |
| NM_001354898.2:c.[161G>A;241C>A;243T>A] | NP_001341827.1:p.[Ser54Asn;Arg81Ser;Arg81=] | |
| NM_001354899.2:c.[236G>A;316C>A;318T>A] | NP_001341828.1:p.[Ser79Asn;Arg106Ser;Arg106=] | |
| NM_001354900.2:c.[59G>A;139C>A;141T>A] | NP_001341829.1:p.[Ser20Asn;Arg47Ser;Arg47=] | |
| NM_001354901.2:c.[59G>A;139C>A;141T>A] | NP_001341830.1:p.[Ser20Asn;Arg47Ser;Arg47=] | |
| NM_001354902.2:c.[266G>A;346C>A;348T>A] | NP_001341831.1:p.[Ser89Asn;Arg116Thr] | |
| NM_001354903.2:c.[236G>A;316C>A;318T>A] | NP_001341832.1:p.[Ser79Asn;Arg106Ser;Arg106=] | |
| NM_001354904.2:c.[161G>A;241C>A;243T>A] | NP_001341833.1:p.[Ser54Asn;Arg81Ser;Arg81=] | |
| NM_001354905.2:c.[59G>A;139C>A;141T>A] | NP_001341834.1:p.[Ser20Asn;Arg47Ser;Arg47=] | |
| NM_001354906.2:c.[-800G>A;-720C>A;-718T>A] | NP_001341835.1:n.[-800G>A;-720C>A;-718T>A] |