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
gnomAD v4:
11-17395716-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17395716G>T , CM000673.2:g.17395716G>T | GRCh38 |
| NC_000011.9:g.17417263G>T , CM000673.1:g.17417263G>T | GRCh37 |
| NC_000011.8:g.17373839G>T | NCBI36 |
| NG_008867.1:g.86187C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000524561.2:n.3802C>A | ||
| ENST00000528374.2:c.792C>A | ||
| ENST00000529967.6:n.2540C>A | ||
| ENST00000532220.2:n.3434C>A | ||
| ENST00000642611.2:n.5534C>A | ||
| ENST00000644057.2:n.777C>A | ||
| ENST00000645004.2:n.1700C>A | ||
| ENST00000682051.1:n.4363C>A | ||
| ENST00000682110.1:n.4416C>A | ||
| ENST00000682140.1:c.4067C>A | ENSP00000507829.1:p.Ala1356Glu | |
| ENST00000682185.1:n.5506C>A | ||
| ENST00000682204.1:c.*2339C>A | ENSP00000507094.1:n.*2339C>A | |
| ENST00000682215.1:n.4783C>A | ||
| ENST00000682288.1:c.*2632C>A | ENSP00000507506.1:n.*2632C>A | |
| ENST00000682442.1:n.4636C>A | ||
| ENST00000682528.1:n.4493C>A | ||
| ENST00000682673.1:n.4360C>A | ||
| ENST00000682805.1:n.4821C>A | ||
| ENST00000682965.1:c.*623C>A | ENSP00000508229.1:n.*623C>A | |
| ENST00000683093.1:n.5500C>A | ||
| ENST00000683136.1:c.4084C>A | ENSP00000507768.1:p.His1362Asn | |
| ENST00000683153.1:n.4458C>A | ||
| ENST00000683365.1:n.4518C>A | ||
| ENST00000683377.1:n.4416C>A | ||
| ENST00000683456.1:c.*1338C>A | ENSP00000508318.1:n.*1338C>A | |
| ENST00000683522.1:n.4416C>A | ||
| ENST00000683562.1:c.*2370C>A | ENSP00000508265.1:n.*2370C>A | |
| ENST00000683693.1:n.5981C>A | ||
| ENST00000683725.1:c.4201C>A | ENSP00000507496.1:p.His1401Asn | |
| ENST00000684010.1:n.4411C>A | ||
| ENST00000684157.1:n.5401C>A | ||
| ENST00000684253.1:n.4319C>A | ||
| ENST00000684288.1:c.*2373C>A | ENSP00000507143.1:n.*2373C>A | |
| ENST00000684313.1:n.3848C>A | ||
| ENST00000684332.1:n.4489C>A | ||
| ENST00000684371.1:n.4522C>A | ||
| ENST00000684404.1:n.5444C>A | ||
| ENST00000684442.1:n.4640C>A | ||
| ENST00000684555.1:c.*2413C>A | ENSP00000507705.1:n.*2413C>A | |
| ENST00000684571.1:c.4042C>A | ENSP00000506935.1:p.His1348Asn | |
| ENST00000684593.1:c.*3906C>A | ENSP00000507005.1:n.*3906C>A | |
| ENST00000684711.1:c.*2597C>A | ENSP00000506841.1:n.*2597C>A | |
| ENST00000302539.9:c.4204C>A | ENSP00000303960.4:p.His1402Asn | |
| ENST00000389817.8:c.4201C>A MANE Select | ENSP00000374467.4:p.His1401Asn | |
| ENST00000642271.1:c.4198C>A | ENSP00000493749.1:p.His1400Asn | |
| ENST00000642579.1:c.2255C>A | ||
| ENST00000642611.1:n.5419C>A | ||
| ENST00000642902.1:c.3983C>A | ||
| ENST00000643260.1:c.4201C>A | ENSP00000494450.1:p.His1401Asn | |
| ENST00000643562.1:c.*2323C>A | ENSP00000496124.1:n.*2323C>A | |
| ENST00000643925.1:c.2841C>A | ||
| ENST00000644057.1:n.278C>A | ||
| ENST00000644484.1:c.*3587C>A | ENSP00000493558.1:n.*3587C>A | |
| ENST00000644675.1:c.*2373C>A | ENSP00000494567.1:n.*2373C>A | |
| ENST00000644757.1:c.*3202+548C>A | ENSP00000495085.1:n.*3202+548C>A | |
| ENST00000644772.1:c.4267C>A | ENSP00000494321.1:p.His1423Asn | |
| ENST00000645004.1:n.1894C>A | ||
| ENST00000645076.1:c.3400C>A | ||
| ENST00000645417.1:c.1389C>A | ||
| ENST00000645744.1:c.*3964-78C>A | ENSP00000494564.1:n.*3964-78C>A | |
| ENST00000645760.1:c.4622C>A | ||
| ENST00000645884.1:c.*1484C>A | ENSP00000495516.1:n.*1484C>A | |
| ENST00000646003.1:c.*2301-78C>A | ENSP00000495259.1:n.*2301-78C>A | |
| ENST00000646207.1:c.*3038C>A | ENSP00000495025.1:n.*3038C>A | |
| ENST00000646276.1:c.*3605C>A | ENSP00000496070.1:n.*3605C>A | |
| ENST00000646592.1:c.3507C>A | ||
| ENST00000646902.1:c.4168C>A | ENSP00000494101.1:p.His1390Asn | |
| ENST00000646993.1:c.*2743C>A | ENSP00000493720.1:n.*2743C>A | |
| ENST00000647013.1:c.4207C>A | ENSP00000496741.1:n.4207C>A | |
| ENST00000647015.1:c.3952C>A | ENSP00000495389.1:p.His1318Asn | |
| ENST00000647086.1:c.*3787C>A | ENSP00000493677.1:n.*3787C>A | |
| ENST00000647158.1:c.*2488C>A | ENSP00000495744.1:n.*2488C>A | |
| ENST00000302539.8:c.4204C>A | ENSP00000303960.4:p.His1402Asn | |
| ENST00000389817.7:c.4201C>A | ENSP00000374467.3:p.His1401Asn | |
| ENST00000525022.1:n.200C>A | ||
| ENST00000526037.5:n.65C>A | ||
| ENST00000526168.5:c.67-78C>A | ||
| ENST00000531642.5:c.37C>A | ||
| NM_000352.4:c.4201C>A | NP_000343.2:p.His1401Asn | |
| NM_001287174.1:c.4204C>A | NP_001274103.1:p.His1402Asn | |
| XM_011520331.1:c.4201C>A | XP_011518633.1:p.His1401Asn | |
| XM_011520332.1:c.4204C>A | XP_011518634.1:p.His1402Asn | |
| XM_011520333.1:c.2701C>A | XP_011518635.1:p.His901Asn | |
| XR_930890.1:n.4267C>A | ||
| NM_001351295.1:c.4267C>A | NP_001338224.1:p.His1423Asn | |
| NM_001351296.1:c.4201C>A | NP_001338225.1:p.His1401Asn | |
| NM_001351297.1:c.4198C>A | NP_001338226.1:p.His1400Asn | |
| NR_147094.1:n.4496C>A | ||
| XM_017018197.2:c.4270C>A | XP_016873686.1:p.His1424Asn | |
| XM_017018199.1:c.4267C>A | XP_016873688.1:p.His1423Asn | |
| XM_017018201.2:c.4270C>A | XP_016873690.1:p.His1424Asn | |
| XM_017018202.1:c.2767C>A | XP_016873691.1:p.His923Asn | |
| XM_017018204.1:c.2158C>A | XP_016873693.1:p.His720Asn | |
| XM_024448668.1:c.2569C>A | XP_024304436.1:p.His857Asn | |
| XR_001747945.2:n.4342C>A | ||
| XR_001747946.2:n.4273C>A | ||
| XR_002957189.1:n.6056C>A | ||
| NM_000352.6:c.4201C>A MANE Select | NP_000343.2:p.His1401Asn | |
| NM_001287174.2:c.4204C>A | NP_001274103.1:p.His1402Asn | |
| NM_001351295.2:c.4267C>A | NP_001338224.1:p.His1423Asn | |
| NM_001351296.2:c.4201C>A | NP_001338225.1:p.His1401Asn | |
| NM_001351297.2:c.4198C>A | NP_001338226.1:p.His1400Asn | |
| NR_147094.2:n.4496C>A | ||
| NM_001287174.3:c.4204C>A | NP_001274103.1:p.His1402Asn |