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.17406957G>T , CM000673.2:g.17406957G>T | GRCh38 |
| NC_000011.9:g.17428504G>T , CM000673.1:g.17428504G>T | GRCh37 |
| NC_000011.8:g.17385080G>T | NCBI36 |
| NG_008867.1:g.74946C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.2662C>A | ||
| ENST00000529967.6:n.1432C>A | ||
| ENST00000532220.2:n.825C>A | ||
| ENST00000642611.2:n.3162C>A | ||
| ENST00000645004.2:n.592C>A | ||
| ENST00000682051.1:n.3109C>A | ||
| ENST00000682110.1:n.3162C>A | ||
| ENST00000682140.1:c.3090C>A | ENSP00000507829.1:p.Tyr1030Ter | |
| ENST00000682185.1:n.4398C>A | ||
| ENST00000682204.1:c.*1231C>A | ENSP00000507094.1:n.*1231C>A | |
| ENST00000682215.1:n.3159C>A | ||
| ENST00000682288.1:c.*1524C>A | ENSP00000507506.1:n.*1524C>A | |
| ENST00000682442.1:n.3283C>A | ||
| ENST00000682528.1:n.3239C>A | ||
| ENST00000682673.1:n.3106C>A | ||
| ENST00000682805.1:n.3159C>A | ||
| ENST00000682965.1:c.3090C>A | ENSP00000508229.1:p.Tyr1030Ter | |
| ENST00000683093.1:n.3261C>A | ||
| ENST00000683136.1:c.3090C>A | ENSP00000507768.1:p.Tyr1030Ter | |
| ENST00000683153.1:n.3318C>A | ||
| ENST00000683365.1:n.3264C>A | ||
| ENST00000683377.1:n.3162C>A | ||
| ENST00000683456.1:c.*230C>A | ENSP00000508318.1:n.*230C>A | |
| ENST00000683522.1:n.3162C>A | ||
| ENST00000683562.1:c.*1262C>A | ENSP00000508265.1:n.*1262C>A | |
| ENST00000683693.1:n.3239C>A | ||
| ENST00000683725.1:c.3093C>A | ENSP00000507496.1:p.Tyr1031Ter | |
| ENST00000684010.1:n.3157C>A | ||
| ENST00000684157.1:n.3162C>A | ||
| ENST00000684253.1:n.3065C>A | ||
| ENST00000684288.1:c.*1265C>A | ENSP00000507143.1:n.*1265C>A | |
| ENST00000684313.1:n.2594C>A | ||
| ENST00000684332.1:n.3235C>A | ||
| ENST00000684371.1:n.3268C>A | ||
| ENST00000684404.1:n.3205C>A | ||
| ENST00000684442.1:n.3162C>A | ||
| ENST00000684555.1:c.*1305C>A | ENSP00000507705.1:n.*1305C>A | |
| ENST00000684571.1:c.2934C>A | ENSP00000506935.1:p.Tyr978Ter | |
| ENST00000684593.1:c.*2798C>A | ENSP00000507005.1:n.*2798C>A | |
| ENST00000684711.1:c.*1489C>A | ENSP00000506841.1:n.*1489C>A | |
| ENST00000302539.9:c.3096C>A | ENSP00000303960.4:p.Tyr1032Ter | |
| ENST00000389817.8:c.3093C>A MANE Select | ENSP00000374467.4:p.Tyr1031Ter | |
| ENST00000642271.1:c.3090C>A | ENSP00000493749.1:p.Tyr1030Ter | |
| ENST00000642579.1:c.1177C>A | ||
| ENST00000642611.1:n.3047C>A | ||
| ENST00000642902.1:c.2875C>A | ||
| ENST00000643260.1:c.3093C>A | ENSP00000494450.1:p.Tyr1031Ter | |
| ENST00000643562.1:c.*1069C>A | ENSP00000496124.1:n.*1069C>A | |
| ENST00000643925.1:c.1217C>A | ||
| ENST00000644447.1:c.1449C>A | ENSP00000496282.1:p.Tyr483Ter | |
| ENST00000644484.1:c.*1348C>A | ENSP00000493558.1:n.*1348C>A | |
| ENST00000644542.1:c.*2798C>A | ENSP00000495532.1:n.*2798C>A | |
| ENST00000644675.1:c.*1265C>A | ENSP00000494567.1:n.*1265C>A | |
| ENST00000644757.1:c.*1378C>A | ENSP00000495085.1:n.*1378C>A | |
| ENST00000644772.1:c.3159C>A | ENSP00000494321.1:p.Tyr1053Ter | |
| ENST00000645004.1:n.232C>A | ||
| ENST00000645076.1:c.2292C>A | ||
| ENST00000645417.1:c.259C>A | ||
| ENST00000645744.1:c.*1357C>A | ENSP00000494564.1:n.*1357C>A | |
| ENST00000645760.1:c.3368C>A | ||
| ENST00000645884.1:c.*230C>A | ENSP00000495516.1:n.*230C>A | |
| ENST00000646003.1:c.*1049C>A | ENSP00000495259.1:n.*1049C>A | |
| ENST00000646207.1:c.*1560C>A | ENSP00000495025.1:n.*1560C>A | |
| ENST00000646276.1:c.*1366C>A | ENSP00000496070.1:n.*1366C>A | |
| ENST00000646592.1:c.2399C>A | ||
| ENST00000646902.1:c.3090C>A | ENSP00000494101.1:p.Tyr1030Ter | |
| ENST00000646993.1:c.*1489C>A | ENSP00000493720.1:n.*1489C>A | |
| ENST00000647013.1:c.3099C>A | ENSP00000496741.1:n.3099C>A | |
| ENST00000647015.1:c.2844C>A | ENSP00000495389.1:p.Tyr948Ter | |
| ENST00000647086.1:c.*2823C>A | ENSP00000493677.1:n.*2823C>A | |
| ENST00000647158.1:c.*1234C>A | ENSP00000495744.1:n.*1234C>A | |
| ENST00000302539.8:c.3096C>A | ENSP00000303960.4:p.Tyr1032Ter | |
| ENST00000389817.7:c.3093C>A | ENSP00000374467.3:p.Tyr1031Ter | |
| ENST00000524561.1:n.225C>A | ||
| ENST00000526921.5:n.777C>A | ||
| ENST00000527905.5:c.2963C>A | ENSP00000431653.1:p.Thr988Asn | |
| ENST00000529967.5:n.762C>A | ||
| NM_000352.4:c.3093C>A | NP_000343.2:p.Tyr1031Ter | |
| NM_001287174.1:c.3096C>A | NP_001274103.1:p.Tyr1032Ter | |
| XM_011520331.1:c.3093C>A | XP_011518633.1:p.Tyr1031Ter | |
| XM_011520332.1:c.3096C>A | XP_011518634.1:p.Tyr1032Ter | |
| XM_011520333.1:c.1593C>A | XP_011518635.1:p.Tyr531Ter | |
| XR_930890.1:n.3159C>A | ||
| XR_930891.1:n.3159C>A | ||
| XR_930892.1:n.3059C>A | ||
| XR_930893.1:n.3056C>A | ||
| NM_001351295.1:c.3159C>A | NP_001338224.1:p.Tyr1053Ter | |
| NM_001351296.1:c.3093C>A | NP_001338225.1:p.Tyr1031Ter | |
| NM_001351297.1:c.3090C>A | NP_001338226.1:p.Tyr1030Ter | |
| NR_147094.1:n.3242C>A | ||
| XM_017018197.2:c.3162C>A | XP_016873686.1:p.Tyr1054Ter | |
| XM_017018199.1:c.3159C>A | XP_016873688.1:p.Tyr1053Ter | |
| XM_017018201.2:c.3162C>A | XP_016873690.1:p.Tyr1054Ter | |
| XM_017018202.1:c.1659C>A | XP_016873691.1:p.Tyr553Ter | |
| XM_017018204.1:c.1050C>A | XP_016873693.1:p.Tyr350Ter | |
| XM_024448668.1:c.1461C>A | XP_024304436.1:p.Tyr487Ter | |
| XR_001747945.2:n.3234C>A | ||
| XR_001747946.2:n.3165C>A | ||
| XR_002957189.1:n.3314C>A | ||
| NM_000352.6:c.3093C>A MANE Select | NP_000343.2:p.Tyr1031Ter | |
| NM_001287174.2:c.3096C>A | NP_001274103.1:p.Tyr1032Ter | |
| NM_001351295.2:c.3159C>A | NP_001338224.1:p.Tyr1053Ter | |
| NM_001351296.2:c.3093C>A | NP_001338225.1:p.Tyr1031Ter | |
| NM_001351297.2:c.3090C>A | NP_001338226.1:p.Tyr1030Ter | |
| NR_147094.2:n.3242C>A | ||
| NM_001287174.3:c.3096C>A | NP_001274103.1:p.Tyr1032Ter |