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_000011.10:g.17394385C>T , CM000673.2:g.17394385C>T | GRCh38 |
| NC_000011.9:g.17415932C>T , CM000673.1:g.17415932C>T | GRCh37 |
| NC_000011.8:g.17372508C>T | NCBI36 |
| NG_008867.1:g.87518G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000524561.2:n.4027G>A | ||
| ENST00000526037.6:n.361G>A | ||
| ENST00000528374.2:c.1017G>A | ||
| ENST00000529967.6:n.2765G>A | ||
| ENST00000532220.2:n.3659G>A | ||
| ENST00000642611.2:n.5759G>A | ||
| ENST00000644057.2:n.1002G>A | ||
| ENST00000645004.2:n.1925G>A | ||
| ENST00000682051.1:n.4588G>A | ||
| ENST00000682110.1:n.4641G>A | ||
| ENST00000682140.1:c.*212G>A | ENSP00000507829.1:n.*212G>A | |
| ENST00000682185.1:n.5731G>A | ||
| ENST00000682204.1:c.*2564G>A | ENSP00000507094.1:n.*2564G>A | |
| ENST00000682215.1:n.5008G>A | ||
| ENST00000682288.1:c.*2857G>A | ENSP00000507506.1:n.*2857G>A | |
| ENST00000682442.1:n.4861G>A | ||
| ENST00000682528.1:n.4718G>A | ||
| ENST00000682673.1:n.4585G>A | ||
| ENST00000682805.1:n.5046G>A | ||
| ENST00000682965.1:c.*848G>A | ENSP00000508229.1:n.*848G>A | |
| ENST00000683093.1:n.5621G>A | ||
| ENST00000683136.1:c.4309G>A | ENSP00000507768.1:p.Glu1437Lys | |
| ENST00000683153.1:n.4683G>A | ||
| ENST00000683365.1:n.4743G>A | ||
| ENST00000683377.1:n.4537G>A | ||
| ENST00000683456.1:c.*1563G>A | ENSP00000508318.1:n.*1563G>A | |
| ENST00000683522.1:n.4723G>A | ||
| ENST00000683562.1:c.*2491G>A | ENSP00000508265.1:n.*2491G>A | |
| ENST00000683693.1:n.6102G>A | ||
| ENST00000683725.1:c.4322G>A | ENSP00000507496.1:p.Arg1441Lys | |
| ENST00000684010.1:n.4636G>A | ||
| ENST00000684014.1:n.613G>A | ||
| ENST00000684157.1:n.5626G>A | ||
| ENST00000684253.1:n.4544G>A | ||
| ENST00000684288.1:c.*2598G>A | ENSP00000507143.1:n.*2598G>A | |
| ENST00000684313.1:n.4073G>A | ||
| ENST00000684332.1:n.4714G>A | ||
| ENST00000684371.1:n.4747G>A | ||
| ENST00000684404.1:n.5669G>A | ||
| ENST00000684442.1:n.4865G>A | ||
| ENST00000684555.1:c.*2638G>A | ENSP00000507705.1:n.*2638G>A | |
| ENST00000684571.1:c.4267G>A | ENSP00000506935.1:p.Glu1423Lys | |
| ENST00000684593.1:c.*4131G>A | ENSP00000507005.1:n.*4131G>A | |
| ENST00000684711.1:c.*2822G>A | ENSP00000506841.1:n.*2822G>A | |
| ENST00000302539.9:c.4429G>A | ENSP00000303960.4:p.Glu1477Lys | |
| ENST00000389817.8:c.4426G>A MANE Select | ENSP00000374467.4:p.Glu1476Lys | |
| ENST00000642271.1:c.4423G>A | ENSP00000493749.1:p.Glu1475Lys | |
| ENST00000642579.1:c.2480G>A | ||
| ENST00000642611.1:n.5644G>A | ||
| ENST00000642902.1:c.4208G>A | ||
| ENST00000643260.1:c.4426G>A | ENSP00000494450.1:p.Glu1476Lys | |
| ENST00000643562.1:c.*2548G>A | ENSP00000496124.1:n.*2548G>A | |
| ENST00000643925.1:c.3066G>A | ||
| ENST00000644057.1:n.585G>A | ||
| ENST00000644484.1:c.*3812G>A | ENSP00000493558.1:n.*3812G>A | |
| ENST00000644675.1:c.*2598G>A | ENSP00000494567.1:n.*2598G>A | |
| ENST00000644757.1:c.*3203-1405G>A | ENSP00000495085.1:n.*3203-1405G>A | |
| ENST00000644772.1:c.4492G>A | ENSP00000494321.1:p.Glu1498Lys | |
| ENST00000645004.1:n.2119G>A | ||
| ENST00000645076.1:c.3521G>A | ||
| ENST00000645417.1:c.1614G>A | ||
| ENST00000645744.1:c.*4111G>A | ENSP00000494564.1:n.*4111G>A | |
| ENST00000645760.1:c.4847G>A | ||
| ENST00000645884.1:c.*1709G>A | ENSP00000495516.1:n.*1709G>A | |
| ENST00000646003.1:c.*2448G>A | ENSP00000495259.1:n.*2448G>A | |
| ENST00000646207.1:c.*3263G>A | ENSP00000495025.1:n.*3263G>A | |
| ENST00000646276.1:c.*3830G>A | ENSP00000496070.1:n.*3830G>A | |
| ENST00000646592.1:c.3732G>A | ||
| ENST00000646902.1:c.4393G>A | ENSP00000494101.1:p.Glu1465Lys | |
| ENST00000646993.1:c.*2864G>A | ENSP00000493720.1:n.*2864G>A | |
| ENST00000647013.1:c.4432G>A | ENSP00000496741.1:n.4432G>A | |
| ENST00000647015.1:c.4177G>A | ENSP00000495389.1:p.Glu1393Lys | |
| ENST00000647086.1:c.*4012G>A | ENSP00000493677.1:n.*4012G>A | |
| ENST00000647158.1:c.*2713G>A | ENSP00000495744.1:n.*2713G>A | |
| ENST00000302539.8:c.4429G>A | ENSP00000303960.4:p.Glu1477Lys | |
| ENST00000389817.7:c.4426G>A | ENSP00000374467.3:p.Glu1476Lys | |
| ENST00000525022.1:n.321G>A | ||
| ENST00000526037.5:n.186G>A | ||
| ENST00000526168.5:c.214G>A | ||
| ENST00000531642.5:c.457G>A | ||
| NM_000352.4:c.4426G>A | NP_000343.2:p.Glu1476Lys | |
| NM_001287174.1:c.4429G>A | NP_001274103.1:p.Glu1477Lys | |
| XM_011520331.1:c.4426G>A | XP_011518633.1:p.Glu1476Lys | |
| XM_011520332.1:c.4325G>A | XP_011518634.1:p.Arg1442Lys | |
| XM_011520333.1:c.2926G>A | XP_011518635.1:p.Glu976Lys | |
| XR_930890.1:n.4388G>A | ||
| NM_001351295.1:c.4492G>A | NP_001338224.1:p.Glu1498Lys | |
| NM_001351296.1:c.4426G>A | NP_001338225.1:p.Glu1476Lys | |
| NM_001351297.1:c.4423G>A | NP_001338226.1:p.Glu1475Lys | |
| NR_147094.1:n.4721G>A | ||
| XM_017018197.2:c.4495G>A | XP_016873686.1:p.Glu1499Lys | |
| XM_017018199.1:c.4492G>A | XP_016873688.1:p.Glu1498Lys | |
| XM_017018201.2:c.4391G>A | XP_016873690.1:p.Arg1464Lys | |
| XM_017018202.1:c.2992G>A | XP_016873691.1:p.Glu998Lys | |
| XM_017018204.1:c.2383G>A | XP_016873693.1:p.Glu795Lys | |
| XM_024448668.1:c.2794G>A | XP_024304436.1:p.Glu932Lys | |
| XR_001747945.2:n.4463G>A | ||
| XR_001747946.2:n.4394G>A | ||
| XR_002957189.1:n.6177G>A | ||
| NM_000352.6:c.4426G>A MANE Select | NP_000343.2:p.Glu1476Lys | |
| NM_001287174.2:c.4429G>A | NP_001274103.1:p.Glu1477Lys | |
| NM_001351295.2:c.4492G>A | NP_001338224.1:p.Glu1498Lys | |
| NM_001351296.2:c.4426G>A | NP_001338225.1:p.Glu1476Lys | |
| NM_001351297.2:c.4423G>A | NP_001338226.1:p.Glu1475Lys | |
| NR_147094.2:n.4721G>A | ||
| NM_001287174.3:c.4429G>A | NP_001274103.1:p.Glu1477Lys |