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_000022.11:g.30557227C= , CM000684.2:g.30557227C= | GRCh38 |
| NC_000022.10:g.30953214C= , CM000684.1:g.30953214C= | GRCh37 |
| NC_000022.9:g.29283214C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000406361.6:c.131+35G= MANE Select | ENSP00000385207.1:n.131+35G= | |
| ENST00000338911.6:c.131+35G= | ENSP00000343234.5:n.131+35G= | |
| ENST00000401975.5:c.131+35G= | ENSP00000384388.1:n.131+35G= | |
| ENST00000402321.5:c.131+35G= | ENSP00000385735.1:n.131+35G= | |
| ENST00000402369.5:c.131+35G= | ENSP00000384122.1:n.131+35G= | |
| ENST00000406361.5:c.131+35G= | ENSP00000385207.1:n.131+35G= | |
| ENST00000406955.5:c.131+35G= | ENSP00000385825.1:n.131+35G= | |
| ENST00000411821.5:c.131+35G= | ENSP00000394912.1:n.131+35G= | |
| ENST00000416358.5:c.131+35G= | ENSP00000391485.1:n.131+35G= | |
| ENST00000423299.5:c.131+35G= | ENSP00000391996.1:n.131+35G= | |
| ENST00000423371.5:c.131+35G= | ENSP00000401074.1:n.131+35G= | |
| ENST00000426220.5:c.131+35G= | ENSP00000414542.1:n.131+35G= | |
| ENST00000427899.5:c.131+35G= | ENSP00000397092.1:n.131+35G= | |
| ENST00000428682.5:c.131+35G= | ENSP00000389876.1:n.131+35G= | |
| ENST00000431313.5:c.131+35G= | ENSP00000395080.1:n.131+35G= | |
| ENST00000437282.5:c.131+35G= | ENSP00000401426.1:n.131+35G= | |
| ENST00000441967.5:c.131+35G= | ENSP00000390545.1:n.131+35G= | |
| ENST00000443136.5:c.131+35G= | ENSP00000405381.1:n.131+35G= | |
| ENST00000445645.5:c.131+35G= | ENSP00000399649.1:n.131+35G= | |
| ENST00000447224.5:c.131+35G= | ENSP00000412995.1:n.131+35G= | |
| ENST00000448604.1:c.131+35G= | ENSP00000390068.1:n.131+35G= | |
| ENST00000452827.5:c.131+35G= | ENSP00000405017.1:n.131+35G= | |
| ENST00000453479.1:c.131+35G= | ENSP00000398380.1:n.131+35G= | |
| NM_004861.1:c.131+35G= | NP_004852.1:n.131+35G= | |
| XM_005261848.1:c.131+35G= | XP_005261905.1:n.131+35G= | |
| XM_005261853.1:c.131+35G= | XP_005261910.1:n.131+35G= | |
| XM_005261856.2:c.131+35G= | XP_005261913.1:n.131+35G= | |
| XM_011530518.1:c.209+35G= | XP_011528820.1:n.209+35G= | |
| XM_011530519.1:c.209+35G= | XP_011528821.1:n.209+35G= | |
| XM_011530520.1:c.131+35G= | XP_011528822.1:n.131+35G= | |
| XM_011530521.1:c.131+35G= | XP_011528823.1:n.131+35G= | |
| XM_011530522.1:c.131+35G= | XP_011528824.1:n.131+35G= | |
| XM_011530523.1:c.131+35G= | XP_011528825.1:n.131+35G= | |
| XM_011530524.1:c.131+35G= | XP_011528826.1:n.131+35G= | |
| XM_011530525.1:c.131+35G= | XP_011528827.1:n.131+35G= | |
| XM_011530526.1:c.131+35G= | XP_011528828.1:n.131+35G= | |
| XM_011530527.1:c.131+35G= | XP_011528829.1:n.131+35G= | |
| XM_011530528.1:c.131+35G= | XP_011528830.1:n.131+35G= | |
| XM_011530529.1:c.131+35G= | XP_011528831.1:n.131+35G= | |
| XM_011530530.1:c.131+35G= | XP_011528832.1:n.131+35G= | |
| XM_011530531.1:c.131+35G= | XP_011528833.1:n.131+35G= | |
| XM_011530532.1:c.131+35G= | XP_011528834.1:n.131+35G= | |
| XM_011530533.1:c.131+35G= | XP_011528835.1:n.131+35G= | |
| XM_011530534.1:c.131+35G= | XP_011528836.1:n.131+35G= | |
| XM_011530535.1:c.131+35G= | XP_011528837.1:n.131+35G= | |
| XM_011530536.1:c.131+35G= | XP_011528838.1:n.131+35G= | |
| NM_001318103.1:c.131+35G= | NP_001305032.1:n.131+35G= | |
| NM_001318104.1:c.131+35G= | NP_001305033.1:n.131+35G= | |
| NM_001318105.1:c.131+35G= | NP_001305034.1:n.131+35G= | |
| NM_001318106.1:c.131+35G= | NP_001305035.1:n.131+35G= | |
| NM_001318107.1:c.131+35G= | NP_001305036.1:n.131+35G= | |
| NM_001318108.1:c.131+35G= | NP_001305037.1:n.131+35G= | |
| NM_001318109.1:c.206+35G= | NP_001305038.1:n.206+35G= | |
| NM_001318110.1:c.131+35G= | NP_001305039.1:n.131+35G= | |
| NM_001318111.1:c.131+35G= | NP_001305040.1:n.131+35G= | |
| NM_001318112.1:c.131+35G= | NP_001305041.1:n.131+35G= | |
| NM_001318113.1:c.131+35G= | NP_001305042.1:n.131+35G= | |
| NM_001318114.1:c.131+35G= | NP_001305043.1:n.131+35G= | |
| NM_001318115.1:c.131+35G= | NP_001305044.1:n.131+35G= | |
| NM_001318116.1:c.131+35G= | NP_001305045.1:n.131+35G= | |
| NM_004861.2:c.131+35G= | NP_004852.1:n.131+35G= | |
| XM_011530518.2:c.209+35G= | XP_011528820.1:n.209+35G= | |
| XM_011530522.2:c.131+35G= | XP_011528824.1:n.131+35G= | |
| XM_017029096.1:c.131+35G= | XP_016884585.1:n.131+35G= | |
| XM_017029097.1:c.131+35G= | XP_016884586.1:n.131+35G= | |
| XM_017029098.1:c.131+35G= | XP_016884587.1:n.131+35G= | |
| XM_024452304.1:c.131+35G= | XP_024308072.1:n.131+35G= | |
| NM_001318104.2:c.131+35G= MANE Select | NP_001305033.1:n.131+35G= | |
| NM_001318103.2:c.131+35G= | NP_001305032.1:n.131+35G= | |
| NM_001318105.2:c.131+35G= | NP_001305034.1:n.131+35G= | |
| NM_001318106.2:c.131+35G= | NP_001305035.1:n.131+35G= | |
| NM_001318107.2:c.131+35G= | NP_001305036.1:n.131+35G= | |
| NM_001318108.2:c.131+35G= | NP_001305037.1:n.131+35G= | |
| NM_001318110.2:c.131+35G= | NP_001305039.1:n.131+35G= | |
| NM_001318111.2:c.131+35G= | NP_001305040.1:n.131+35G= | |
| NM_001318112.2:c.131+35G= | NP_001305041.1:n.131+35G= | |
| NM_001318113.2:c.131+35G= | NP_001305042.1:n.131+35G= | |
| NM_001318114.2:c.131+35G= | NP_001305043.1:n.131+35G= | |
| NM_001318115.2:c.131+35G= | NP_001305044.1:n.131+35G= | |
| NM_001318116.2:c.131+35G= | NP_001305045.1:n.131+35G= | |
| NM_004861.3:c.131+35G= | NP_004852.1:n.131+35G= |