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.17406888C>G , CM000673.2:g.17406888C>G | GRCh38 |
| NC_000011.9:g.17428435C>G , CM000673.1:g.17428435C>G | GRCh37 |
| NC_000011.8:g.17385011C>G | NCBI36 |
| NG_008867.1:g.75015G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.2731G>C | ||
| ENST00000529967.6:n.1501G>C | ||
| ENST00000532220.2:n.894G>C | ||
| ENST00000642611.2:n.3231G>C | ||
| ENST00000645004.2:n.661G>C | ||
| ENST00000682051.1:n.3178G>C | ||
| ENST00000682110.1:n.3231G>C | ||
| ENST00000682140.1:c.3159G>C | ENSP00000507829.1:p.Gln1053His | |
| ENST00000682185.1:n.4467G>C | ||
| ENST00000682204.1:c.*1300G>C | ENSP00000507094.1:n.*1300G>C | |
| ENST00000682215.1:n.3228G>C | ||
| ENST00000682288.1:c.*1593G>C | ENSP00000507506.1:n.*1593G>C | |
| ENST00000682442.1:n.3352G>C | ||
| ENST00000682528.1:n.3308G>C | ||
| ENST00000682673.1:n.3175G>C | ||
| ENST00000682805.1:n.3228G>C | ||
| ENST00000682965.1:c.3159G>C | ENSP00000508229.1:p.Gln1053His | |
| ENST00000683093.1:n.3330G>C | ||
| ENST00000683136.1:c.3159G>C | ENSP00000507768.1:p.Gln1053His | |
| ENST00000683153.1:n.3387G>C | ||
| ENST00000683365.1:n.3333G>C | ||
| ENST00000683377.1:n.3231G>C | ||
| ENST00000683456.1:c.*299G>C | ENSP00000508318.1:n.*299G>C | |
| ENST00000683522.1:n.3231G>C | ||
| ENST00000683562.1:c.*1331G>C | ENSP00000508265.1:n.*1331G>C | |
| ENST00000683693.1:n.3308G>C | ||
| ENST00000683725.1:c.3162G>C | ENSP00000507496.1:p.Gln1054His | |
| ENST00000684010.1:n.3226G>C | ||
| ENST00000684157.1:n.3231G>C | ||
| ENST00000684253.1:n.3134G>C | ||
| ENST00000684288.1:c.*1334G>C | ENSP00000507143.1:n.*1334G>C | |
| ENST00000684313.1:n.2663G>C | ||
| ENST00000684332.1:n.3304G>C | ||
| ENST00000684371.1:n.3337G>C | ||
| ENST00000684404.1:n.3274G>C | ||
| ENST00000684442.1:n.3231G>C | ||
| ENST00000684555.1:c.*1374G>C | ENSP00000507705.1:n.*1374G>C | |
| ENST00000684571.1:c.3003G>C | ENSP00000506935.1:p.Gln1001His | |
| ENST00000684593.1:c.*2867G>C | ENSP00000507005.1:n.*2867G>C | |
| ENST00000684711.1:c.*1558G>C | ENSP00000506841.1:n.*1558G>C | |
| ENST00000302539.9:c.3165G>C | ENSP00000303960.4:p.Gln1055His | |
| ENST00000389817.8:c.3162G>C MANE Select | ENSP00000374467.4:p.Gln1054His | |
| ENST00000642271.1:c.3159G>C | ENSP00000493749.1:p.Gln1053His | |
| ENST00000642579.1:c.1246G>C | ||
| ENST00000642611.1:n.3116G>C | ||
| ENST00000642902.1:c.2944G>C | ||
| ENST00000643260.1:c.3162G>C | ENSP00000494450.1:p.Gln1054His | |
| ENST00000643562.1:c.*1138G>C | ENSP00000496124.1:n.*1138G>C | |
| ENST00000643925.1:c.1286G>C | ||
| ENST00000644447.1:c.1518G>C | ENSP00000496282.1:p.Gln506His | |
| ENST00000644484.1:c.*1417G>C | ENSP00000493558.1:n.*1417G>C | |
| ENST00000644542.1:c.*2867G>C | ENSP00000495532.1:n.*2867G>C | |
| ENST00000644675.1:c.*1334G>C | ENSP00000494567.1:n.*1334G>C | |
| ENST00000644757.1:c.*1447G>C | ENSP00000495085.1:n.*1447G>C | |
| ENST00000644772.1:c.3228G>C | ENSP00000494321.1:p.Gln1076His | |
| ENST00000645004.1:n.301G>C | ||
| ENST00000645076.1:c.2361G>C | ||
| ENST00000645417.1:c.328G>C | ||
| ENST00000645744.1:c.*1426G>C | ENSP00000494564.1:n.*1426G>C | |
| ENST00000645760.1:c.3437G>C | ||
| ENST00000645884.1:c.*299G>C | ENSP00000495516.1:n.*299G>C | |
| ENST00000646003.1:c.*1118G>C | ENSP00000495259.1:n.*1118G>C | |
| ENST00000646207.1:c.*1629G>C | ENSP00000495025.1:n.*1629G>C | |
| ENST00000646276.1:c.*1435G>C | ENSP00000496070.1:n.*1435G>C | |
| ENST00000646592.1:c.2468G>C | ||
| ENST00000646902.1:c.3159G>C | ENSP00000494101.1:p.Gln1053His | |
| ENST00000646993.1:c.*1558G>C | ENSP00000493720.1:n.*1558G>C | |
| ENST00000647013.1:c.3168G>C | ENSP00000496741.1:n.3168G>C | |
| ENST00000647015.1:c.2913G>C | ENSP00000495389.1:p.Gln971His | |
| ENST00000647086.1:c.*2892G>C | ENSP00000493677.1:n.*2892G>C | |
| ENST00000647158.1:c.*1303G>C | ENSP00000495744.1:n.*1303G>C | |
| ENST00000302539.8:c.3165G>C | ENSP00000303960.4:p.Gln1055His | |
| ENST00000389817.7:c.3162G>C | ENSP00000374467.3:p.Gln1054His | |
| ENST00000524561.1:n.294G>C | ||
| ENST00000526921.5:n.846G>C | ||
| ENST00000527905.5:c.*38G>C | ENSP00000431653.1:n.*38G>C | |
| ENST00000529967.5:n.831G>C | ||
| NM_000352.4:c.3162G>C | NP_000343.2:p.Gln1054His | |
| NM_001287174.1:c.3165G>C | NP_001274103.1:p.Gln1055His | |
| XM_011520331.1:c.3162G>C | XP_011518633.1:p.Gln1054His | |
| XM_011520332.1:c.3165G>C | XP_011518634.1:p.Gln1055His | |
| XM_011520333.1:c.1662G>C | XP_011518635.1:p.Gln554His | |
| XR_930890.1:n.3228G>C | ||
| XR_930891.1:n.3228G>C | ||
| XR_930892.1:n.3128G>C | ||
| XR_930893.1:n.3125G>C | ||
| NM_001351295.1:c.3228G>C | NP_001338224.1:p.Gln1076His | |
| NM_001351296.1:c.3162G>C | NP_001338225.1:p.Gln1054His | |
| NM_001351297.1:c.3159G>C | NP_001338226.1:p.Gln1053His | |
| NR_147094.1:n.3311G>C | ||
| XM_017018197.2:c.3231G>C | XP_016873686.1:p.Gln1077His | |
| XM_017018199.1:c.3228G>C | XP_016873688.1:p.Gln1076His | |
| XM_017018201.2:c.3231G>C | XP_016873690.1:p.Gln1077His | |
| XM_017018202.1:c.1728G>C | XP_016873691.1:p.Gln576His | |
| XM_017018204.1:c.1119G>C | XP_016873693.1:p.Gln373His | |
| XM_024448668.1:c.1530G>C | XP_024304436.1:p.Gln510His | |
| XR_001747945.2:n.3303G>C | ||
| XR_001747946.2:n.3234G>C | ||
| XR_002957189.1:n.3383G>C | ||
| NM_000352.6:c.3162G>C MANE Select | NP_000343.2:p.Gln1054His | |
| NM_001287174.2:c.3165G>C | NP_001274103.1:p.Gln1055His | |
| NM_001351295.2:c.3228G>C | NP_001338224.1:p.Gln1076His | |
| NM_001351296.2:c.3162G>C | NP_001338225.1:p.Gln1054His | |
| NM_001351297.2:c.3159G>C | NP_001338226.1:p.Gln1053His | |
| NR_147094.2:n.3311G>C | ||
| NM_001287174.3:c.3165G>C | NP_001274103.1:p.Gln1055His |