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_000001.11:g.109627893A>G , CM000663.2:g.109627893A>G | GRCh38 |
| NC_000001.10:g.110170515A>G , CM000663.1:g.110170515A>G | GRCh37 |
| NC_000001.9:g.109972038A>G | NCBI36 |
| NG_034075.1:g.13081A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000256578.8:c.1070A>G | ENSP00000256578.4:p.Asn357Ser | |
| ENST00000358729.9:c.1070A>G | ENSP00000351573.5:p.Asn357Ser | |
| ENST00000369840.7:c.1070A>G | ENSP00000358855.3:p.Asn357Ser | |
| ENST00000474459.6:n.1689A>G | ||
| ENST00000476688.3:c.752A>G | ENSP00000437025.2:p.Asn251Ser | |
| ENST00000486282.7:n.1793A>G | ||
| ENST00000524975.2:n.1404A>G | ||
| ENST00000525415.2:n.1586A>G | ||
| ENST00000526301.6:n.1133A>G | ||
| ENST00000527846.7:n.925A>G | ||
| ENST00000528667.7:c.1070A>G MANE Select | ENSP00000436541.2:p.Asn357Ser | |
| ENST00000531203.6:c.878A>G | ENSP00000431975.2:p.Asn293Ser | |
| ENST00000531734.6:c.989A>G | ENSP00000433739.2:p.Asn330Ser | |
| ENST00000652975.2:c.*822A>G | ENSP00000499620.2:n.*822A>G | |
| ENST00000654851.1:n.912A>G | ||
| ENST00000655992.1:c.878A>G | ENSP00000499740.1:p.Asn293Ser | |
| ENST00000659122.2:c.1070A>G | ENSP00000499621.2:p.Asn357Ser | |
| ENST00000663749.1:c.*822A>G | ENSP00000499739.1:n.*822A>G | |
| ENST00000667949.2:c.470A>G | ENSP00000499465.2:p.Asn157Ser | |
| ENST00000668421.1:c.*1011A>G | ENSP00000499362.1:n.*1011A>G | |
| ENST00000679379.1:c.*822A>G | ENSP00000505528.1:n.*822A>G | |
| ENST00000679593.1:c.1070A>G | ENSP00000505999.1:p.Asn357Ser | |
| ENST00000679880.1:n.1590A>G | ||
| ENST00000679892.1:c.*838A>G | ENSP00000504882.1:n.*838A>G | |
| ENST00000679981.1:c.*1084A>G | ENSP00000506422.1:n.*1084A>G | |
| ENST00000680132.1:c.*934A>G | ENSP00000505950.1:n.*934A>G | |
| ENST00000680148.1:c.*822A>G | ENSP00000505994.1:n.*822A>G | |
| ENST00000680170.1:n.1702A>G | ||
| ENST00000680192.1:n.1795A>G | ||
| ENST00000680519.1:n.1306A>G | ||
| ENST00000680531.1:c.*822A>G | ENSP00000506332.1:n.*822A>G | |
| ENST00000680820.1:c.*822A>G | ENSP00000505735.1:n.*822A>G | |
| ENST00000680832.1:c.*1084A>G | ENSP00000505774.1:n.*1084A>G | |
| ENST00000680929.1:c.*822A>G | ENSP00000504916.1:n.*822A>G | |
| ENST00000681108.1:c.*822A>G | ENSP00000506701.1:n.*822A>G | |
| ENST00000681121.1:c.*180A>G | ENSP00000506466.1:n.*180A>G | |
| ENST00000681132.1:c.*836A>G | ENSP00000506195.1:n.*836A>G | |
| ENST00000681181.1:c.*822A>G | ENSP00000506038.1:n.*822A>G | |
| ENST00000681218.1:c.*1196A>G | ENSP00000505976.1:n.*1196A>G | |
| ENST00000681246.1:c.*726A>G | ENSP00000505534.1:n.*726A>G | |
| ENST00000681496.1:c.*1196A>G | ENSP00000505948.1:n.*1196A>G | |
| ENST00000681834.1:n.1409A>G | ||
| ENST00000681862.1:c.*1196A>G | ENSP00000505537.1:n.*1196A>G | |
| ENST00000256578.7:c.1232A>G | ENSP00000256578.3:p.Asn411Ser | |
| ENST00000342115.8:c.989A>G | ENSP00000345498.4:p.Asn330Ser | |
| ENST00000358729.8:c.1007A>G | ENSP00000351573.4:p.Asn336Ser | |
| ENST00000369840.6:c.1143A>G | ||
| ENST00000393688.7:c.875A>G | ENSP00000377292.3:p.Asn292Ser | |
| ENST00000526301.5:n.1271A>G | ||
| ENST00000528454.5:c.878A>G | ENSP00000437164.1:p.Asn293Ser | |
| ENST00000528667.5:c.1232A>G | ENSP00000436541.1:p.Asn411Ser | |
| ENST00000529299.2:n.120A>G | ||
| NM_001257360.1:c.1232A>G | NP_001244289.1:p.Asn411Ser | |
| NM_001257361.1:c.878A>G | NP_001244290.1:p.Asn293Ser | |
| NM_001308170.1:c.1007A>G | NP_001295099.1:p.Asn336Ser | |
| NM_004037.7:c.1232A>G | NP_004028.3:p.Asn411Ser | |
| NM_139156.3:c.989A>G | NP_631895.1:p.Asn330Ser | |
| NM_203404.1:c.875A>G | NP_981949.1:p.Asn292Ser | |
| XM_011541247.1:c.1445A>G | XP_011539549.1:p.Asn482Ser | |
| XM_011541248.1:c.1445A>G | XP_011539550.1:p.Asn482Ser | |
| XR_946607.1:n.1468A>G | ||
| XM_024446431.1:c.1007A>G | XP_024302199.1:p.Asn336Ser | |
| XM_024446432.1:c.1007A>G | XP_024302200.1:p.Asn336Ser | |
| XR_002956282.1:n.1643A>G | ||
| NM_001257360.2:c.1232A>G | NP_001244289.1:p.Asn411Ser | |
| NM_001368809.2:c.1070A>G MANE Select | NP_001355738.1:p.Asn357Ser | |
| NM_004037.9:c.1070A>G | NP_004028.4:p.Asn357Ser | |
| NM_001257361.2:c.878A>G | NP_001244290.1:p.Asn293Ser | |
| NM_139156.4:c.989A>G | NP_631895.1:p.Asn330Ser |