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.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2088246A>G , CM000678.2:g.2088246A>G | GRCh38 |
| NC_000016.9:g.2138247A>G , CM000678.1:g.2138247A>G | GRCh37 |
| NC_000016.8:g.2078248A>G | NCBI36 |
| NG_005895.1:g.43941A>G , LRG_487:g.43941A>G | |
| NG_008617.1:g.54975T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000568566.6:c.*3529A>G | ENSP00000455997.2:n.*3529A>G | |
| ENST00000642206.2:c.5027A>G | ENSP00000495146.2:p.His1676Arg | |
| ENST00000642365.2:c.5177A>G | ENSP00000495459.2:p.His1726Arg | |
| ENST00000644417.2:c.*5693A>G | ENSP00000493912.2:n.*5693A>G | |
| ENST00000646464.2:c.*7929A>G | ENSP00000496610.2:n.*7929A>G | |
| ENST00000219476.9:c.5180A>G MANE Select | ENSP00000219476.3:p.His1727Arg | |
| ENST00000350773.9:c.5111A>G | ENSP00000344383.4:p.His1704Arg | |
| ENST00000401874.7:c.4979A>G | ENSP00000384468.2:p.His1660Arg | |
| ENST00000568454.6:c.5012A>G | ENSP00000454487.1:p.His1671Arg | |
| ENST00000569110.2:c.1403A>G | ||
| ENST00000569930.2:n.3062A>G | ||
| ENST00000642365.1:c.3834A>G | ||
| ENST00000642561.1:c.5039A>G | ENSP00000495099.1:p.His1680Arg | |
| ENST00000642791.1:n.777A>G | ||
| ENST00000642797.1:c.4982A>G | ENSP00000493846.1:p.His1661Arg | |
| ENST00000642936.1:c.5048A>G | ENSP00000494514.1:p.His1683Arg | |
| ENST00000643088.1:c.4973A>G | ENSP00000494747.1:p.His1658Arg | |
| ENST00000643426.1:n.2828A>G | ||
| ENST00000643946.1:c.5105A>G | ENSP00000495927.1:p.His1702Arg | |
| ENST00000644043.1:c.5051A>G | ENSP00000496262.1:p.His1684Arg | |
| ENST00000644329.1:c.5066A>G | ENSP00000496611.1:p.His1689Arg | |
| ENST00000644335.1:c.4976A>G | ENSP00000496317.1:p.His1659Arg | |
| ENST00000644399.1:c.5101A>G | ||
| ENST00000645024.1:n.3264A>G | ||
| ENST00000646388.1:c.5174A>G | ENSP00000495921.1:p.His1725Arg | |
| ENST00000646634.1:n.3995A>G | ||
| ENST00000646674.1:n.2432A>G | ||
| ENST00000647042.1:n.2403A>G | ||
| ENST00000647180.1:n.2293A>G | ||
| ENST00000219476.7:c.5180A>G | ENSP00000219476.3:p.His1727Arg | |
| ENST00000350773.8:c.5111A>G | ENSP00000344383.4:p.His1704Arg | |
| ENST00000382538.10:c.4835A>G | ENSP00000371978.6:p.His1612Arg | |
| ENST00000401874.6:c.4979A>G | ENSP00000384468.2:p.His1660Arg | |
| ENST00000439117.6:c.*4347A>G | ENSP00000406980.2:n.*4347A>G | |
| ENST00000439673.6:c.4871A>G | ENSP00000399232.2:p.His1624Arg | |
| ENST00000497886.5:n.2903A>G | ||
| ENST00000568454.5:c.5012A>G | ENSP00000454487.1:p.His1671Arg | |
| ENST00000569110.1:c.1362A>G | ||
| ENST00000569930.1:n.2295A>G | ||
| NM_000548.3:c.5180A>G , LRG_487t1:c.5180A>G | NP_000539.2:p.His1727Arg | |
| NM_001077183.1:c.4979A>G | NP_001070651.1:p.His1660Arg | |
| NM_001114382.1:c.5111A>G | NP_001107854.1:p.His1704Arg | |
| XM_005255529.3:c.5051A>G | XP_005255586.2:p.His1684Arg | |
| XM_005255531.3:c.4982A>G | XP_005255588.2:p.His1661Arg | |
| XM_011522636.1:c.5234A>G | XP_011520938.1:p.His1745Arg | |
| XM_011522637.1:c.5231A>G | XP_011520939.1:p.His1744Arg | |
| XM_011522638.1:c.5123A>G | XP_011520940.1:p.His1708Arg | |
| XM_011522639.1:c.5105A>G | XP_011520941.1:p.His1702Arg | |
| XM_011522640.1:c.5102A>G | XP_011520942.1:p.His1701Arg | |
| XM_011522641.1:c.4871A>G | XP_011520943.1:p.His1624Arg | |
| NM_000548.4:c.5180A>G | NP_000539.2:p.His1727Arg | |
| NM_001077183.2:c.4979A>G | NP_001070651.1:p.His1660Arg | |
| NM_001114382.2:c.5111A>G | NP_001107854.1:p.His1704Arg | |
| NM_001318827.1:c.4871A>G | NP_001305756.1:p.His1624Arg | |
| NM_001318829.1:c.4835A>G | NP_001305758.1:p.His1612Arg | |
| NM_001318831.1:c.4448A>G | NP_001305760.1:p.His1483Arg | |
| NM_001318832.1:c.5012A>G | NP_001305761.1:p.His1671Arg | |
| NM_001363528.1:c.4982A>G | NP_001350457.1:p.His1661Arg | |
| NM_021055.2:c.5051A>G | NP_066399.2:p.His1684Arg | |
| XM_005255531.4:c.4982A>G | XP_005255588.2:p.His1661Arg | |
| XM_011522636.2:c.5234A>G | XP_011520938.1:p.His1745Arg | |
| XM_011522637.2:c.5231A>G | XP_011520939.1:p.His1744Arg | |
| XM_011522638.2:c.5396A>G | XP_011520940.2:p.His1799Arg | |
| XM_011522639.2:c.5105A>G | XP_011520941.1:p.His1702Arg | |
| XM_011522640.2:c.5102A>G | XP_011520942.1:p.His1701Arg | |
| XM_017023615.1:c.5177A>G | XP_016879104.1:p.His1726Arg | |
| XM_017023616.1:c.5048A>G | XP_016879105.1:p.His1683Arg | |
| XM_017023617.1:c.5144A>G | XP_016879106.1:p.His1715Arg | |
| XM_017023618.1:c.3890A>G | XP_016879107.1:p.His1297Arg | |
| XM_024450413.1:c.5066A>G | XP_024306181.1:p.His1689Arg | |
| NM_000548.5:c.5180A>G MANE Select | NP_000539.2:p.His1727Arg | |
| NM_001370404.1:c.5048A>G | NP_001357333.1:p.His1683Arg | |
| NM_001370405.1:c.5039A>G | NP_001357334.1:p.His1680Arg | |
| NM_001077183.3:c.4979A>G | NP_001070651.1:p.His1660Arg | |
| NM_001114382.3:c.5111A>G | NP_001107854.1:p.His1704Arg | |
| NM_001318827.2:c.4871A>G | NP_001305756.1:p.His1624Arg | |
| NM_001318829.2:c.4835A>G | NP_001305758.1:p.His1612Arg | |
| NM_001318831.2:c.4448A>G | NP_001305760.1:p.His1483Arg | |
| NM_001318832.2:c.5012A>G | NP_001305761.1:p.His1671Arg | |
| NM_001363528.2:c.4982A>G | NP_001350457.1:p.His1661Arg | |
| NM_021055.3:c.5051A>G | NP_066399.2:p.His1684Arg |