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_000002.12:g.241751151G= , CM000664.2:g.241751151G= | GRCh38 |
| NC_000002.11:g.242690566G= , CM000664.1:g.242690566G= | GRCh37 |
| NC_000002.10:g.242339239G= | NCBI36 |
| NG_012012.1:g.21537G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321264.9:c.998-95G= MANE Select | ENSP00000315351.4:n.998-95G= | |
| ENST00000321264.8:c.998-95G= | ENSP00000315351.4:n.998-95G= | |
| ENST00000400769.6:c.854-4698G= | ENSP00000383580.2:n.854-4698G= | |
| ENST00000403782.5:c.596-95G= | ENSP00000384723.1:n.596-95G= | |
| ENST00000432449.1:c.258-95G= | ||
| ENST00000436747.5:c.*1314-95G= | ENSP00000400212.1:n.*1314-95G= | |
| ENST00000454048.1:c.101-95G= | ENSP00000404596.1:n.101-95G= | |
| ENST00000467427.5:n.389+857G= | ||
| ENST00000470343.5:n.479-95G= | ||
| ENST00000473126.1:n.197-95G= | ||
| ENST00000486953.5:n.163+857G= | ||
| ENST00000496252.5:n.353-95G= | ||
| NM_001287249.1:c.596-95G= | NP_001274178.1:n.596-95G= | |
| NM_152783.4:c.998-95G= | NP_689996.4:n.998-95G= | |
| NR_109778.1:n.1063-4698G= | ||
| XM_011511734.1:c.1076-95G= | XP_011510036.1:n.1076-95G= | |
| XM_011511735.1:c.1076-95G= | XP_011510037.1:n.1076-95G= | |
| XM_011511736.1:c.998-95G= | XP_011510038.1:n.998-95G= | |
| XM_011511737.1:c.1076-95G= | XP_011510039.1:n.1076-95G= | |
| XM_011511742.1:c.1213-95G= | XP_011510044.1:n.1213-95G= | |
| XM_011511743.1:c.1213-95G= | XP_011510045.1:n.1213-95G= | |
| XM_011511744.1:c.1213-95G= | XP_011510046.1:n.1213-95G= | |
| XM_011511745.1:c.1076-95G= | XP_011510047.1:n.1076-95G= | |
| XM_011511748.1:c.1147-95G= | XP_011510050.1:n.1147-95G= | |
| XM_011511749.1:c.1179+857G= | XP_011510051.1:n.1179+857G= | |
| XM_011511750.1:c.1076-95G= | XP_011510052.1:n.1076-95G= | |
| XM_011511751.1:c.1212+572G= | XP_011510053.1:n.1212+572G= | |
| XM_011511753.1:c.1075+857G= | XP_011510055.1:n.1075+857G= | |
| XM_011511754.1:c.515-95G= | XP_011510056.1:n.515-95G= | |
| XM_011511755.1:c.506-95G= | XP_011510057.1:n.506-95G= | |
| XM_011511756.1:c.853+6274G= | XP_011510058.1:n.853+6274G= | |
| XM_011511757.1:c.*14-95G= | XP_011510059.1:n.*14-95G= | |
| XR_241434.3:n.1337-95G= | ||
| XR_923003.1:n.1859-95G= | ||
| XR_923004.1:n.1630-95G= | ||
| XR_923005.1:n.1373-95G= | ||
| XR_923006.1:n.1373-95G= | ||
| XR_923007.1:n.1340-95G= | ||
| XR_923008.1:n.1236-95G= | ||
| XR_923009.1:n.1236-95G= | ||
| XR_923010.1:n.1670-95G= | ||
| XR_923011.1:n.1441-95G= | ||
| XR_923012.1:n.1375-95G= | ||
| XR_923014.1:n.1014-4698G= | ||
| NM_001352824.1:c.437-95G= | NP_001339753.1:n.437-95G= | |
| XM_011511734.2:c.1076-95G= | XP_011510036.1:n.1076-95G= | |
| XM_011511735.2:c.1076-95G= | XP_011510037.1:n.1076-95G= | |
| XM_011511736.2:c.998-95G= | XP_011510038.1:n.998-95G= | |
| XM_011511737.3:c.1076-95G= | XP_011510039.1:n.1076-95G= | |
| XM_011511743.2:c.1213-95G= | XP_011510045.1:n.1213-95G= | |
| XM_011511744.2:c.1213-95G= | XP_011510046.1:n.1213-95G= | |
| XM_011511745.3:c.1076-95G= | XP_011510047.1:n.1076-95G= | |
| XM_011511749.3:c.1179+857G= | XP_011510051.1:n.1179+857G= | |
| XM_011511750.3:c.1076-95G= | XP_011510052.1:n.1076-95G= | |
| XM_011511751.2:c.1212+572G= | XP_011510053.1:n.1212+572G= | |
| XM_011511753.3:c.1075+857G= | XP_011510055.1:n.1075+857G= | |
| XM_011511756.2:c.853+6274G= | XP_011510058.1:n.853+6274G= | |
| XM_011511757.3:c.*14-95G= | XP_011510059.1:n.*14-95G= | |
| XM_017004828.2:c.998-95G= | XP_016860317.1:n.998-95G= | |
| XM_017004829.2:c.1213-95G= | XP_016860318.1:n.1213-95G= | |
| XM_017004830.2:c.1076-95G= | XP_016860319.1:n.1076-95G= | |
| XM_024453102.1:c.848-95G= | XP_024308870.1:n.848-95G= | |
| XR_001738918.2:n.1372-95G= | ||
| XR_001738919.2:n.1306-95G= | ||
| XR_002959334.1:n.1858-95G= | ||
| XR_002959335.1:n.1502-95G= | ||
| XR_241434.4:n.1336-95G= | ||
| XR_923004.3:n.1629-95G= | ||
| XR_923005.2:n.1372-95G= | ||
| XR_923007.3:n.1339-95G= | ||
| XR_923009.2:n.1235-95G= | ||
| XR_923010.2:n.1669-95G= | ||
| XR_923011.3:n.1440-95G= | ||
| XR_923012.2:n.1374-95G= | ||
| XR_923014.3:n.1013-4698G= | ||
| NM_152783.5:c.998-95G= MANE Select | NP_689996.4:n.998-95G= | |
| NM_001287249.2:c.596-95G= | NP_001274178.1:n.596-95G= | |
| NM_001352824.2:c.437-95G= | NP_001339753.1:n.437-95G= | |
| NR_109778.2:n.1012-4698G= |