UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131513287C>A , CM000671.2:g.131513287C>A | GRCh38 |
| NC_000009.11:g.134388674C>A , CM000671.1:g.134388674C>A | GRCh37 |
| NC_000009.10:g.133378495C>A | NCBI36 |
| NG_008896.1:g.15386C>A | |
| NG_008896.2:g.15386C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000341012.13:c.969C>A | ENSP00000343034.7:p.Asp323Glu | |
| ENST00000404875.7:n.1671C>A | ||
| ENST00000423007.6:c.1188C>A | ENSP00000404119.2:p.Asp396Glu | |
| ENST00000677295.2:c.*1475C>A | ENSP00000504346.2:n.*1475C>A | |
| ENST00000678264.2:c.*1314C>A | ENSP00000503157.2:n.*1314C>A | |
| ENST00000682070.1:n.1596C>A | ||
| ENST00000682813.1:n.1396C>A | ||
| ENST00000683392.1:n.3878C>A | ||
| ENST00000683712.1:n.1536C>A | ||
| ENST00000683900.1:n.3031C>A | ||
| ENST00000684062.1:n.1797C>A | ||
| ENST00000684579.1:n.2977C>A | ||
| ENST00000341012.12:c.969C>A | ENSP00000343034.7:p.Asp323Glu | |
| ENST00000372220.5:c.-1C>A | ENSP00000361294.5:n.-1C>A | |
| ENST00000372228.9:c.1197C>A | ENSP00000361302.3:p.Asp399Glu | |
| ENST00000402686.8:c.1131C>A MANE Select | ENSP00000385797.4:p.Asp377Glu | |
| ENST00000676640.1:c.1131C>A | ENSP00000503281.1:p.Asp377Glu | |
| ENST00000676803.1:c.306C>A | ENSP00000503093.1:p.Asp102Glu | |
| ENST00000676835.1:c.*346C>A | ENSP00000502911.1:n.*346C>A | |
| ENST00000677029.1:c.675C>A | ENSP00000502936.1:p.Asp225Glu | |
| ENST00000677099.1:c.*841C>A | ENSP00000504553.1:n.*841C>A | |
| ENST00000677216.1:c.780C>A | ENSP00000503772.1:p.Asp260Glu | |
| ENST00000677293.1:c.306C>A | ENSP00000504278.1:p.Asp102Glu | |
| ENST00000677295.1:c.*508C>A | ENSP00000504346.1:n.*508C>A | |
| ENST00000677444.1:c.937C>A | ||
| ENST00000677586.1:n.612C>A | ||
| ENST00000677626.1:c.824+1820C>A | ENSP00000503552.1:n.824+1820C>A | |
| ENST00000677677.1:n.1091C>A | ||
| ENST00000677853.1:c.*139C>A | ENSP00000503488.1:n.*139C>A | |
| ENST00000677944.1:c.393C>A | ||
| ENST00000678264.1:c.*508C>A | ENSP00000503157.1:n.*508C>A | |
| ENST00000678303.1:c.1041C>A | ENSP00000503696.1:p.Asp347Glu | |
| ENST00000678366.1:c.*1380C>A | ENSP00000504353.1:n.*1380C>A | |
| ENST00000678546.1:c.*1076C>A | ENSP00000503062.1:n.*1076C>A | |
| ENST00000678548.1:c.*1203C>A | ENSP00000503934.1:n.*1203C>A | |
| ENST00000678626.1:n.828C>A | ||
| ENST00000678733.1:c.256+1151C>A | ||
| ENST00000678739.1:c.*1457C>A | ENSP00000503806.1:n.*1457C>A | |
| ENST00000678795.1:n.218C>A | ||
| ENST00000678833.1:c.*578C>A | ENSP00000503893.1:n.*578C>A | |
| ENST00000678942.1:c.311C>A | ENSP00000504690.1:n.311C>A | |
| ENST00000679023.1:c.969C>A | ENSP00000503718.1:p.Asp323Glu | |
| ENST00000679073.1:c.509C>A | ENSP00000504356.1:n.509C>A | |
| ENST00000679076.1:c.750C>A | ||
| ENST00000679111.1:c.1131C>A | ENSP00000504257.1:p.Asp377Glu | |
| ENST00000679189.1:c.780C>A | ENSP00000503356.1:p.Asp260Glu | |
| ENST00000341012.11:c.969C>A | ENSP00000343034.7:p.Asp323Glu | |
| ENST00000372228.7:c.1197C>A | ENSP00000361302.3:p.Asp399Glu | |
| ENST00000402686.7:c.1131C>A | ENSP00000385797.3:p.Asp377Glu | |
| ENST00000404875.6:c.780C>A | ENSP00000384531.2:p.Asp260Glu | |
| ENST00000423007.5:c.1131C>A | ENSP00000404119.1:p.Asp377Glu | |
| ENST00000441334.5:c.846C>A | ENSP00000395060.1:p.Asp282Glu | |
| ENST00000462375.5:n.957C>A | ||
| ENST00000485278.5:n.1686C>A | ||
| NM_001077365.1:c.1131C>A | NP_001070833.1:p.Asp377Glu | |
| NM_001077366.1:c.969C>A | NP_001070834.1:p.Asp323Glu | |
| NM_001136113.1:c.1131C>A | NP_001129585.1:p.Asp377Glu | |
| NM_001136114.1:c.780C>A | NP_001129586.1:p.Asp260Glu | |
| NM_007171.3:c.1197C>A | NP_009102.3:p.Asp399Glu | |
| XM_005272156.1:c.1197C>A | XP_005272213.1:p.Asp399Glu | |
| XM_005272158.1:c.1035C>A | XP_005272215.1:p.Asp345Glu | |
| XM_005272159.1:c.846C>A | XP_005272216.1:p.Asp282Glu | |
| XM_005272162.1:c.-1C>A | XP_005272219.1:n.-1C>A | |
| XM_006716932.1:c.846C>A | XP_006716995.1:p.Asp282Glu | |
| XM_011518140.1:c.1050C>A | XP_011516442.1:p.Asp350Glu | |
| XM_011518141.1:c.984C>A | XP_011516443.1:p.Asp328Glu | |
| XM_011518142.1:c.888C>A | XP_011516444.1:p.Asp296Glu | |
| XM_011518143.1:c.882C>A | XP_011516445.1:p.Asp294Glu | |
| XM_011518144.1:c.1197C>A | XP_011516446.1:p.Asp399Glu | |
| XM_011518145.1:c.741C>A | XP_011516447.1:p.Asp247Glu | |
| XM_011518146.1:c.882C>A | XP_011516448.1:p.Asp294Glu | |
| XR_929703.1:n.1373C>A | ||
| NM_001353193.1:c.1197C>A | NP_001340122.1:p.Asp399Glu | |
| NM_001353194.1:c.969C>A | NP_001340123.1:p.Asp323Glu | |
| NM_001353195.1:c.780C>A | NP_001340124.1:p.Asp260Glu | |
| NM_001353196.1:c.1041C>A | NP_001340125.1:p.Asp347Glu | |
| NM_001353197.1:c.1035C>A | NP_001340126.1:p.Asp345Glu | |
| NM_001353198.1:c.1035C>A | NP_001340127.1:p.Asp345Glu | |
| NM_001353199.1:c.846C>A | NP_001340128.1:p.Asp282Glu | |
| NM_001353200.1:c.675C>A | NP_001340129.1:p.Asp225Glu | |
| NR_148391.1:n.1181C>A | ||
| NR_148392.1:n.1399C>A | ||
| NR_148393.1:n.1181C>A | ||
| NR_148394.1:n.1074C>A | ||
| NR_148395.1:n.1333C>A | ||
| NR_148396.1:n.967C>A | ||
| NR_148397.1:n.1231C>A | ||
| NR_148398.1:n.1186C>A | ||
| NR_148399.1:n.1573C>A | ||
| NR_148400.1:n.1172C>A | ||
| XM_005272162.3:c.-1C>A | XP_005272219.1:n.-1C>A | |
| XM_006716932.2:c.846C>A | XP_006716995.1:p.Asp282Glu | |
| XM_011518140.2:c.1050C>A | XP_011516442.1:p.Asp350Glu | |
| XM_011518141.2:c.984C>A | XP_011516443.1:p.Asp328Glu | |
| XM_011518142.2:c.888C>A | XP_011516444.1:p.Asp296Glu | |
| XM_011518143.2:c.882C>A | XP_011516445.1:p.Asp294Glu | |
| XM_011518145.2:c.741C>A | XP_011516447.1:p.Asp247Glu | |
| XM_017014205.2:c.-1C>A | XP_016869694.1:n.-1C>A | |
| XM_024447380.1:c.-1C>A | XP_024303148.1:n.-1C>A | |
| XM_024447381.1:c.306C>A | XP_024303149.1:p.Asp102Glu | |
| XM_024447382.1:c.-1C>A | XP_024303150.1:n.-1C>A | |
| XR_001746160.2:n.1301C>A | ||
| XR_001746162.2:n.1367C>A | ||
| XR_001746164.1:n.1084C>A | ||
| XR_001746166.2:n.1518C>A | ||
| NM_001077365.2:c.1131C>A MANE Select | NP_001070833.1:p.Asp377Glu | |
| NM_001077366.2:c.969C>A | NP_001070834.1:p.Asp323Glu | |
| NM_001136113.2:c.1131C>A | NP_001129585.1:p.Asp377Glu | |
| NM_001136114.2:c.780C>A | NP_001129586.1:p.Asp260Glu | |
| NM_001353193.2:c.1197C>A | NP_001340122.2:p.Asp399Glu | |
| NM_001353194.2:c.969C>A | NP_001340123.1:p.Asp323Glu | |
| NM_001353195.2:c.780C>A | NP_001340124.1:p.Asp260Glu | |
| NM_001353196.2:c.1041C>A | NP_001340125.1:p.Asp347Glu | |
| NM_001353197.2:c.1035C>A | NP_001340126.2:p.Asp345Glu | |
| NM_001353198.2:c.1035C>A | NP_001340127.2:p.Asp345Glu | |
| NM_001353199.2:c.846C>A | NP_001340128.2:p.Asp282Glu | |
| NM_001353200.2:c.675C>A | NP_001340129.1:p.Asp225Glu | |
| NM_001374689.1:c.1119C>A | NP_001361618.1:p.Asp373Glu | |
| NM_001374690.1:c.1131C>A | NP_001361619.1:p.Asp377Glu | |
| NM_001374691.1:c.780C>A | NP_001361620.1:p.Asp260Glu | |
| NM_001374692.1:c.780C>A | NP_001361621.1:p.Asp260Glu | |
| NM_001374693.1:c.824+1820C>A | NP_001361622.1:n.824+1820C>A | |
| NM_001374695.1:c.741C>A | NP_001361624.1:p.Asp247Glu | |
| NM_007171.4:c.1197C>A | NP_009102.4:p.Asp399Glu | |
| NR_148391.2:n.1165C>A | ||
| NR_148392.2:n.1383C>A | ||
| NR_148393.2:n.1165C>A | ||
| NR_148394.2:n.1058C>A | ||
| NR_148395.2:n.1317C>A | ||
| NR_148396.2:n.951C>A | ||
| NR_148397.2:n.1215C>A | ||
| NR_148398.2:n.1170C>A | ||
| NR_148399.2:n.1557C>A | ||
| NR_148400.2:n.1156C>A |