WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.85507270T= , CM000668.2:g.85507270T= | GRCh38 |
| NC_000006.11:g.86216988T= , CM000668.1:g.86216988T= | GRCh37 |
| NC_000006.10:g.86273707T= | NCBI36 |
| NG_047171.1:g.91887A= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000418862.2:c.893A= | ENSP00000391981.2:p.Asp298= | |
| ENST00000508658.6:c.2765A= | ENSP00000422814.2:p.Asp922= | |
| ENST00000509338.6:c.1886A= | ENSP00000424302.2:p.Asp629= | |
| ENST00000514801.2:n.1982A= | ||
| ENST00000515216.6:c.2746-14A= | ENSP00000425630.2:n.2746-14A= | |
| ENST00000681965.1:c.3903A= | ENSP00000507317.1:n.3903A= | |
| ENST00000681981.1:c.2681A= | ENSP00000507672.1:p.Asp894= | |
| ENST00000682022.1:c.*2657A= | ENSP00000508118.1:n.*2657A= | |
| ENST00000682023.1:c.*2388A= | ENSP00000507998.1:n.*2388A= | |
| ENST00000682034.1:c.*1932A= | ENSP00000506724.1:n.*1932A= | |
| ENST00000682057.1:c.*2194A= | ENSP00000507883.1:n.*2194A= | |
| ENST00000682083.1:c.*2675A= | ENSP00000506859.1:n.*2675A= | |
| ENST00000682106.1:n.5279A= | ||
| ENST00000682133.1:c.*328A= | ENSP00000507001.1:n.*328A= | |
| ENST00000682171.1:c.2606A= | ENSP00000508327.1:p.Asp869= | |
| ENST00000682174.1:c.*2388A= | ENSP00000507248.1:n.*2388A= | |
| ENST00000682374.1:c.*1311A= | ENSP00000507425.1:n.*1311A= | |
| ENST00000682412.1:c.2605A= | ENSP00000507297.1:n.2605A= | |
| ENST00000682454.1:c.*2128A= | ENSP00000507851.1:n.*2128A= | |
| ENST00000682455.1:c.*3743A= | ENSP00000507586.1:n.*3743A= | |
| ENST00000682464.1:c.*328A= | ENSP00000507625.1:n.*328A= | |
| ENST00000682491.1:c.2477A= | ENSP00000506970.1:p.Asp826= | |
| ENST00000682497.1:c.2762A= | ENSP00000507869.1:p.Asp921= | |
| ENST00000682504.1:c.*2671A= | ENSP00000507623.1:n.*2671A= | |
| ENST00000682514.1:n.8552A= | ||
| ENST00000682594.1:n.3381A= | ||
| ENST00000682633.1:c.*328A= | ENSP00000507843.1:n.*328A= | |
| ENST00000682660.1:c.2504A= | ENSP00000507539.1:p.Asp835= | |
| ENST00000682682.1:c.2600A= | ENSP00000507777.1:p.Asp867= | |
| ENST00000682688.1:c.*1770A= | ENSP00000507097.1:n.*1770A= | |
| ENST00000682694.1:c.*2128A= | ENSP00000507387.1:n.*2128A= | |
| ENST00000682709.1:n.8684A= | ||
| ENST00000682738.1:c.2573A= | ENSP00000507742.1:p.Asp858= | |
| ENST00000682776.1:c.*1516A= | ENSP00000507490.1:n.*1516A= | |
| ENST00000682854.1:c.*2753A= | ENSP00000507257.1:n.*2753A= | |
| ENST00000682878.1:c.*2453A= | ENSP00000507360.1:n.*2453A= | |
| ENST00000682926.1:n.2172A= | ||
| ENST00000682939.1:c.2477A= | ENSP00000506902.1:p.Asp826= | |
| ENST00000682991.1:c.2546A= | ENSP00000508193.1:p.Asp849= | |
| ENST00000682995.1:c.*1489A= | ENSP00000506807.1:n.*1489A= | |
| ENST00000683073.1:c.*883A= | ENSP00000507270.1:n.*883A= | |
| ENST00000683074.1:c.*2675A= | ENSP00000507008.1:n.*2675A= | |
| ENST00000683085.1:c.*840A= | ENSP00000507993.1:n.*840A= | |
| ENST00000683097.1:c.*1135A= | ENSP00000507556.1:n.*1135A= | |
| ENST00000683126.1:c.*2285A= | ENSP00000507507.1:n.*2285A= | |
| ENST00000683195.1:c.*2128A= | ENSP00000508190.1:n.*2128A= | |
| ENST00000683196.1:c.*2128A= | ENSP00000508297.1:n.*2128A= | |
| ENST00000683364.1:c.*2635A= | ENSP00000507791.1:n.*2635A= | |
| ENST00000683436.1:c.*1796A= | ENSP00000506874.1:n.*1796A= | |
| ENST00000683458.1:c.*1516A= | ENSP00000508204.1:n.*1516A= | |
| ENST00000683473.1:n.3876A= | ||
| ENST00000683479.1:c.2765A= | ENSP00000507368.1:p.Asp922= | |
| ENST00000683481.1:c.*1647A= | ENSP00000507015.1:n.*1647A= | |
| ENST00000683541.1:c.2762A= | ENSP00000507116.1:p.Asp921= | |
| ENST00000683542.1:c.*2289A= | ENSP00000506893.1:n.*2289A= | |
| ENST00000683577.1:c.*328A= | ENSP00000507516.1:n.*328A= | |
| ENST00000683583.1:c.*5179A= | ENSP00000507244.1:n.*5179A= | |
| ENST00000683643.1:c.2633A= | ENSP00000507444.1:p.Asp878= | |
| ENST00000683698.1:c.*2281A= | ENSP00000507000.1:n.*2281A= | |
| ENST00000683726.1:c.*2285A= | ENSP00000507744.1:n.*2285A= | |
| ENST00000683754.1:c.2684A= | ENSP00000507707.1:p.Asp895= | |
| ENST00000683763.1:n.1463A= | ||
| ENST00000683785.1:c.2630A= | ENSP00000507188.1:p.Asp877= | |
| ENST00000683803.1:c.*1516A= | ENSP00000508216.1:n.*1516A= | |
| ENST00000683857.1:c.*2194A= | ENSP00000508015.1:n.*2194A= | |
| ENST00000683873.1:c.*2340A= | ENSP00000506829.1:n.*2340A= | |
| ENST00000683878.1:c.*2046A= | ENSP00000507449.1:n.*2046A= | |
| ENST00000683880.1:c.*2289A= | ENSP00000508357.1:n.*2289A= | |
| ENST00000683898.1:c.2600A= | ENSP00000506897.1:p.Asp867= | |
| ENST00000683909.1:n.4795A= | ||
| ENST00000684017.1:n.8277A= | ||
| ENST00000684108.1:n.8684A= | ||
| ENST00000684118.1:c.2743-14A= | ENSP00000507950.1:n.2743-14A= | |
| ENST00000684150.1:c.2606A= | ENSP00000507401.1:p.Asp869= | |
| ENST00000684220.1:c.*2635A= | ENSP00000507382.1:n.*2635A= | |
| ENST00000684239.1:c.*2390A= | ENSP00000507479.1:n.*2390A= | |
| ENST00000684273.1:c.*2258A= | ENSP00000508063.1:n.*2258A= | |
| ENST00000684281.1:c.2414A= | ENSP00000507932.1:p.Asp805= | |
| ENST00000684299.1:c.*328A= | ENSP00000507637.1:n.*328A= | |
| ENST00000684319.1:c.*328A= | ENSP00000508346.1:n.*328A= | |
| ENST00000684422.1:c.*2438A= | ENSP00000507146.1:n.*2438A= | |
| ENST00000684451.1:c.*2070A= | ENSP00000507384.1:n.*2070A= | |
| ENST00000684570.1:c.2828A= | ENSP00000508127.1:p.Asp943= | |
| ENST00000684581.1:c.*586A= | ENSP00000507294.1:n.*586A= | |
| ENST00000684647.1:c.2474A= | ENSP00000506873.1:p.Asp825= | |
| ENST00000684680.1:c.2390A= | ENSP00000507491.1:p.Asp797= | |
| ENST00000684717.1:c.2882A= | ENSP00000507024.1:p.Asp961= | |
| ENST00000314673.8:c.2765A= MANE Select | ENSP00000313121.3:p.Asp922= | |
| ENST00000314673.7:c.2765A= | ENSP00000313121.3:p.Asp922= | |
| ENST00000346348.7:c.2606A= | ENSP00000257769.3:p.Asp869= | |
| ENST00000369627.6:c.2738A= | ENSP00000358641.2:p.Asp913= | |
| ENST00000474645.6:n.510A= | ||
| ENST00000503491.5:n.3254A= | ||
| ENST00000505648.5:c.2609A= | ENSP00000427380.1:p.Asp870= | |
| ENST00000508658.5:c.481A= | ||
| ENST00000508980.5:n.3371A= | ||
| ENST00000513865.5:c.1922A= | ENSP00000420938.1:p.Asp641= | |
| NM_001297614.2:c.2738A= | NP_001284543.1:p.Asp913= | |
| NM_001304479.1:c.2609A= | NP_001291408.1:p.Asp870= | |
| NM_020468.5:c.2606A= | NP_065201.1:p.Asp869= | |
| NM_153816.5:c.2765A= | NP_722523.1:p.Asp922= | |
| XM_005248738.3:c.2762A= | XP_005248795.1:p.Asp921= | |
| XM_005248740.3:c.2633A= | XP_005248797.1:p.Asp878= | |
| XM_011535978.1:c.2546A= | XP_011534280.1:p.Asp849= | |
| XM_011535979.1:c.2477A= | XP_011534281.1:p.Asp826= | |
| XM_011535980.1:c.1610A= | XP_011534282.1:p.Asp537= | |
| XR_942523.1:n.2873A= | ||
| NM_001350532.1:c.2828A= | NP_001337461.1:p.Asp943= | |
| NM_001350533.1:c.2762A= | NP_001337462.1:p.Asp921= | |
| NM_001350534.1:c.2735A= | NP_001337463.1:p.Asp912= | |
| NM_001350535.1:c.2743-14A= | NP_001337464.1:n.2743-14A= | |
| NM_001350536.1:c.2633A= | NP_001337465.1:p.Asp878= | |
| NM_001350537.1:c.2630A= | NP_001337466.1:p.Asp877= | |
| NM_001350538.1:c.2621A= | NP_001337467.1:p.Asp874= | |
| NM_001350539.1:c.2606A= | NP_001337468.1:p.Asp869= | |
| NM_001350540.1:c.2600A= | NP_001337469.1:p.Asp867= | |
| NM_001350541.1:c.2573A= | NP_001337470.1:p.Asp858= | |
| NM_001350542.1:c.2477A= | NP_001337471.1:p.Asp826= | |
| NM_001350543.1:c.2474A= | NP_001337472.1:p.Asp825= | |
| NM_001350544.1:c.2465A= | NP_001337473.1:p.Asp822= | |
| NM_001350545.1:c.2321A= | NP_001337474.1:p.Asp774= | |
| NM_001350546.1:c.2321A= | NP_001337475.1:p.Asp774= | |
| NM_001350547.1:c.1715A= | NP_001337476.1:p.Asp572= | |
| NM_001350548.1:c.1610A= | NP_001337477.1:p.Asp537= | |
| NM_001350549.1:c.1610A= | NP_001337478.1:p.Asp537= | |
| NM_001350550.1:c.1610A= | NP_001337479.1:p.Asp537= | |
| NM_001350551.1:c.1610A= | NP_001337480.1:p.Asp537= | |
| NM_001350552.1:c.1610A= | NP_001337481.1:p.Asp537= | |
| NM_001350553.1:c.1583A= | NP_001337482.1:p.Asp528= | |
| NR_146774.1:n.3199A= | ||
| NR_146775.1:n.3202A= | ||
| NR_146776.1:n.3325A= | ||
| NR_146777.1:n.3453A= | ||
| NR_146778.1:n.3457A= | ||
| NR_146779.1:n.3454A= | ||
| XM_017011090.1:c.2606A= | XP_016866579.1:p.Asp869= | |
| XM_024446498.1:c.2474A= | XP_024302266.1:p.Asp825= | |
| XM_024446499.1:c.1610A= | XP_024302267.1:p.Asp537= | |
| NM_153816.6:c.2765A= MANE Select | NP_722523.1:p.Asp922= | |
| NM_001297614.3:c.2738A= | NP_001284543.1:p.Asp913= | |
| NM_001304479.2:c.2609A= | NP_001291408.1:p.Asp870= | |
| NM_001350532.2:c.2828A= | NP_001337461.1:p.Asp943= | |
| NM_001350533.2:c.2762A= | NP_001337462.1:p.Asp921= | |
| NM_001350534.2:c.2735A= | NP_001337463.1:p.Asp912= | |
| NM_001350535.2:c.2743-14A= | NP_001337464.1:n.2743-14A= | |
| NM_001350536.2:c.2633A= | NP_001337465.1:p.Asp878= | |
| NM_001350537.2:c.2630A= | NP_001337466.1:p.Asp877= | |
| NM_001350538.2:c.2621A= | NP_001337467.1:p.Asp874= | |
| NM_001350539.2:c.2606A= | NP_001337468.1:p.Asp869= | |
| NM_001350540.2:c.2600A= | NP_001337469.1:p.Asp867= | |
| NM_001350541.2:c.2573A= | NP_001337470.1:p.Asp858= | |
| NM_001350542.2:c.2477A= | NP_001337471.1:p.Asp826= | |
| NM_001350543.2:c.2474A= | NP_001337472.1:p.Asp825= | |
| NM_001350544.2:c.2465A= | NP_001337473.1:p.Asp822= | |
| NM_001350545.2:c.2321A= | NP_001337474.1:p.Asp774= | |
| NM_001350546.2:c.2321A= | NP_001337475.1:p.Asp774= | |
| NM_001350547.2:c.1715A= | NP_001337476.1:p.Asp572= | |
| NM_001350548.2:c.1610A= | NP_001337477.1:p.Asp537= | |
| NM_001350549.2:c.1610A= | NP_001337478.1:p.Asp537= | |
| NM_001350550.2:c.1610A= | NP_001337479.1:p.Asp537= | |
| NM_001350551.2:c.1610A= | NP_001337480.1:p.Asp537= | |
| NM_001350552.2:c.1610A= | NP_001337481.1:p.Asp537= | |
| NM_001350553.2:c.1583A= | NP_001337482.1:p.Asp528= | |
| NM_020468.6:c.2606A= | NP_065201.1:p.Asp869= | |
| NR_146774.2:n.2901A= | ||
| NR_146775.2:n.2904A= | ||
| NR_146776.2:n.3027A= | ||
| NR_146777.2:n.3155A= | ||
| NR_146778.2:n.3159A= | ||
| NR_146779.2:n.3156A= |