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
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.31147273A>C , CM000685.2:g.31147273A>C | GRCh38 |
| NC_000023.10:g.31165390A>C , CM000685.1:g.31165390A>C | GRCh37 |
| NC_000023.9:g.31075311A>C | NCBI36 |
| NG_012232.1:g.2197337T>G , LRG_199:g.2197337T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000358062.7:c.5604+2T>G | ENSP00000350765.3:n.5604+2T>G | |
| ENST00000680162.2:c.1488+2T>G | ENSP00000506634.2:n.1488+2T>G | |
| ENST00000680768.2:c.1554+2T>G | ENSP00000506359.2:n.1554+2T>G | |
| ENST00000681989.1:n.1595+2T>G | ||
| ENST00000682207.1:n.917+2T>G | ||
| ENST00000682238.1:c.3087+2T>G | ENSP00000508124.1:n.3087+2T>G | |
| ENST00000682322.1:c.1488+2T>G | ENSP00000507690.1:n.1488+2T>G | |
| ENST00000682600.1:c.1554+2T>G | ENSP00000507640.1:n.1554+2T>G | |
| ENST00000682769.1:n.1389+2T>G | ||
| ENST00000683503.1:n.2612+2T>G | ||
| ENST00000683509.1:n.2275+2T>G | ||
| ENST00000683675.1:n.1896+2T>G | ||
| ENST00000683709.1:n.2276+2T>G | ||
| ENST00000683995.1:n.942+2T>G | ||
| ENST00000684072.1:n.1026+2T>G | ||
| ENST00000684103.1:n.1205+2T>G | ||
| ENST00000684130.1:c.3378+2T>G | ENSP00000508037.1:n.3378+2T>G | |
| ENST00000684342.1:n.1841+2T>G | ||
| ENST00000684350.1:n.2612+2T>G | ||
| ENST00000343523.7:c.2652+2T>G | ENSP00000340057.4:n.2652+2T>G | |
| ENST00000357033.9:c.10797+2T>G MANE Select | ENSP00000354923.3:n.10797+2T>G | |
| ENST00000619831.5:c.6765+2T>G | ENSP00000479270.2:n.6765+2T>G | |
| ENST00000620040.5:c.3335+45T>G | ENSP00000478150.2:n.3335+45T>G | |
| ENST00000679437.1:c.459+2T>G | ENSP00000506629.1:n.459+2T>G | |
| ENST00000679641.1:c.*469+2T>G | ENSP00000506135.1:n.*469+2T>G | |
| ENST00000679706.1:c.424+2T>G | ||
| ENST00000679850.1:n.5808+2T>G | ||
| ENST00000680162.1:c.1470+2T>G | ENSP00000506634.1:n.1470+2T>G | |
| ENST00000680355.1:c.1263+2T>G | ENSP00000506257.1:n.1263+2T>G | |
| ENST00000680557.1:c.604-13079T>G | ENSP00000505164.1:n.604-13079T>G | |
| ENST00000680701.1:n.572+2T>G | ||
| ENST00000680768.1:c.1497+2T>G | ENSP00000506359.1:n.1497+2T>G | |
| ENST00000680961.1:c.*760+2T>G | ENSP00000506386.1:n.*760+2T>G | |
| ENST00000681026.1:c.459+2T>G | ENSP00000506689.1:n.459+2T>G | |
| ENST00000681153.1:c.1554+2T>G | ENSP00000505124.1:n.1554+2T>G | |
| ENST00000343523.6:c.2610+2T>G | ENSP00000340057.3:n.2610+2T>G | |
| ENST00000357033.8:c.10797+2T>G | ENSP00000354923.3:n.10797+2T>G | |
| ENST00000358062.6:c.3846+2T>G | ENSP00000350765.2:n.3846+2T>G | |
| ENST00000359836.5:c.3378+2T>G | ENSP00000352894.1:n.3378+2T>G | |
| ENST00000361471.8:c.1554+2T>G | ENSP00000354464.4:n.1554+2T>G | |
| ENST00000378677.6:c.10785+2T>G | ENSP00000367948.2:n.10785+2T>G | |
| ENST00000378680.6:c.1263+2T>G | ENSP00000367951.2:n.1263+2T>G | |
| ENST00000378702.8:c.1593+2T>G | ENSP00000367974.4:n.1593+2T>G | |
| ENST00000378707.7:c.3417+2T>G | ENSP00000367979.3:n.3417+2T>G | |
| ENST00000378723.7:c.1593+2T>G | ENSP00000367997.3:n.1593+2T>G | |
| ENST00000474231.5:c.3417+2T>G | ENSP00000417123.1:n.3417+2T>G | |
| ENST00000481143.2:n.114+22170T>G | ||
| ENST00000541735.5:c.3087+2T>G | ENSP00000444119.1:n.3087+2T>G | |
| ENST00000619831.4:c.10782+2T>G | ENSP00000479270.1:n.10782+2T>G | |
| ENST00000620040.4:c.10794+2T>G | ENSP00000478150.1:n.10794+2T>G | |
| NM_000109.3:c.10773+2T>G | NP_000100.2:n.10773+2T>G | |
| NM_004006.2:c.10797+2T>G , LRG_199t1:c.10797+2T>G | NP_003997.1:n.10797+2T>G | |
| NM_004009.3:c.10785+2T>G | NP_004000.1:n.10785+2T>G | |
| NM_004010.3:c.10428+2T>G | NP_004001.1:n.10428+2T>G | |
| NM_004011.3:c.6774+2T>G | NP_004002.2:n.6774+2T>G | |
| NM_004012.3:c.6765+2T>G | NP_004003.1:n.6765+2T>G | |
| NM_004013.2:c.3417+2T>G | NP_004004.1:n.3417+2T>G | |
| NM_004014.2:c.2610+2T>G | NP_004005.1:n.2610+2T>G | |
| NM_004015.2:c.1593+2T>G | NP_004006.1:n.1593+2T>G | |
| NM_004016.2:c.1593+2T>G | NP_004007.1:n.1593+2T>G | |
| NM_004017.2:c.1554+2T>G | NP_004008.1:n.1554+2T>G | |
| NM_004018.2:c.1554+2T>G | NP_004009.1:n.1554+2T>G | |
| NM_004020.3:c.3087+2T>G | NP_004011.2:n.3087+2T>G | |
| NM_004021.2:c.3417+2T>G | NP_004012.1:n.3417+2T>G | |
| NM_004022.2:c.3378+2T>G | NP_004013.1:n.3378+2T>G | |
| NM_004023.2:c.3087+2T>G | NP_004014.1:n.3087+2T>G | |
| XM_006724468.2:c.10797+2T>G | XP_006724531.1:n.10797+2T>G | |
| XM_006724469.2:c.10773+2T>G | XP_006724532.1:n.10773+2T>G | |
| XM_006724470.2:c.10758+2T>G | XP_006724533.1:n.10758+2T>G | |
| XM_006724471.2:c.10692+2T>G | XP_006724534.1:n.10692+2T>G | |
| XM_006724472.2:c.10668+2T>G | XP_006724535.1:n.10668+2T>G | |
| XM_006724473.2:c.10659+2T>G | XP_006724536.1:n.10659+2T>G | |
| XM_006724474.2:c.10467+2T>G | XP_006724537.1:n.10467+2T>G | |
| XM_006724475.2:c.10467+2T>G | XP_006724538.1:n.10467+2T>G | |
| XM_011545467.1:c.10674+2T>G | XP_011543769.1:n.10674+2T>G | |
| XM_006724469.3:c.10773+2T>G | XP_006724532.1:n.10773+2T>G | |
| XM_006724470.3:c.10758+2T>G | XP_006724533.1:n.10758+2T>G | |
| XM_006724474.3:c.10467+2T>G | XP_006724537.1:n.10467+2T>G | |
| XM_017029328.1:c.10758+2T>G | XP_016884817.1:n.10758+2T>G | |
| XM_017029331.1:c.4971+2T>G | XP_016884820.1:n.4971+2T>G | |
| NM_000109.4:c.10773+2T>G | NP_000100.3:n.10773+2T>G | |
| NM_004006.3:c.10797+2T>G MANE Select | NP_003997.2:n.10797+2T>G | |
| NM_004011.4:c.6774+2T>G | NP_004002.3:n.6774+2T>G | |
| NM_004012.4:c.6765+2T>G | NP_004003.2:n.6765+2T>G | |
| NM_004015.3:c.1593+2T>G | NP_004006.1:n.1593+2T>G | |
| NM_004016.3:c.1593+2T>G | NP_004007.1:n.1593+2T>G | |
| NM_004017.3:c.1554+2T>G | NP_004008.1:n.1554+2T>G | |
| NM_004018.3:c.1554+2T>G | NP_004009.1:n.1554+2T>G | |
| NM_004021.3:c.3417+2T>G | NP_004012.2:n.3417+2T>G | |
| NM_004023.3:c.3087+2T>G | NP_004014.2:n.3087+2T>G | |
| NM_004013.3:c.3417+2T>G | NP_004004.2:n.3417+2T>G | |
| NM_004014.3:c.2610+2T>G | NP_004005.2:n.2610+2T>G | |
| NM_004020.4:c.3087+2T>G | NP_004011.3:n.3087+2T>G | |
| NM_004022.3:c.3378+2T>G | NP_004013.2:n.3378+2T>G |