WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131522089G>C , CM000671.2:g.131522089G>C | GRCh38 |
| NC_000009.11:g.134397476G>C , CM000671.1:g.134397476G>C | GRCh37 |
| NC_000009.10:g.133387297G>C | NCBI36 |
| NG_008896.1:g.24188G>C | |
| NG_008896.2:g.24188G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000341012.13:c.1706G>C | ENSP00000343034.7:p.Gly569Ala | |
| ENST00000404875.7:n.2408G>C | ||
| ENST00000423007.6:c.1925G>C | ENSP00000404119.2:p.Gly642Ala | |
| ENST00000677295.2:c.*2212G>C | ENSP00000504346.2:n.*2212G>C | |
| ENST00000678264.2:c.*2051G>C | ENSP00000503157.2:n.*2051G>C | |
| ENST00000682070.1:n.2291-113G>C | ||
| ENST00000682813.1:n.2272G>C | ||
| ENST00000683392.1:n.4573-113G>C | ||
| ENST00000683712.1:n.2273G>C | ||
| ENST00000683900.1:n.3768G>C | ||
| ENST00000684062.1:n.2534G>C | ||
| ENST00000684579.1:n.3714G>C | ||
| ENST00000684679.1:n.1095G>C | ||
| ENST00000341012.12:c.1706G>C | ENSP00000343034.7:p.Gly569Ala | |
| ENST00000372220.5:c.737G>C | ENSP00000361294.5:p.Gly246Ala | |
| ENST00000372228.9:c.1934G>C | ENSP00000361302.3:p.Gly645Ala | |
| ENST00000402686.8:c.1868G>C MANE Select | ENSP00000385797.4:p.Gly623Ala | |
| ENST00000676640.1:c.1868G>C | ENSP00000503281.1:p.Gly623Ala | |
| ENST00000676803.1:c.929G>C | ENSP00000503093.1:p.Gly310Ala | |
| ENST00000676835.1:c.*1083G>C | ENSP00000502911.1:n.*1083G>C | |
| ENST00000677029.1:c.1412G>C | ENSP00000502936.1:p.Gly471Ala | |
| ENST00000677099.1:c.*1578G>C | ENSP00000504553.1:n.*1578G>C | |
| ENST00000677216.1:c.1517G>C | ENSP00000503772.1:p.Gly506Ala | |
| ENST00000677221.1:n.893G>C | ||
| ENST00000677295.1:c.*1203-113G>C | ENSP00000504346.1:n.*1203-113G>C | |
| ENST00000677444.1:c.1813G>C | ||
| ENST00000677586.1:n.1235G>C | ||
| ENST00000677626.1:c.1517G>C | ENSP00000503552.1:p.Gly506Ala | |
| ENST00000677853.1:c.*876G>C | ENSP00000503488.1:n.*876G>C | |
| ENST00000678202.1:n.1027G>C | ||
| ENST00000678264.1:c.*1245G>C | ENSP00000503157.1:n.*1245G>C | |
| ENST00000678303.1:c.1778G>C | ENSP00000503696.1:p.Gly593Ala | |
| ENST00000678366.1:c.*2117G>C | ENSP00000504353.1:n.*2117G>C | |
| ENST00000678546.1:c.*1813G>C | ENSP00000503062.1:n.*1813G>C | |
| ENST00000678548.1:c.*2007G>C | ENSP00000503934.1:n.*2007G>C | |
| ENST00000678626.1:n.1704G>C | ||
| ENST00000678739.1:c.*2147-113G>C | ENSP00000503806.1:n.*2147-113G>C | |
| ENST00000678833.1:c.*1620G>C | ENSP00000503893.1:n.*1620G>C | |
| ENST00000679023.1:c.1706G>C | ENSP00000503718.1:p.Gly569Ala | |
| ENST00000679076.1:c.1487G>C | ||
| ENST00000679111.1:c.*624G>C | ENSP00000504257.1:n.*624G>C | |
| ENST00000679189.1:c.1517G>C | ENSP00000503356.1:p.Gly506Ala | |
| ENST00000341012.11:c.1706G>C | ENSP00000343034.7:p.Gly569Ala | |
| ENST00000372220.4:c.731G>C | ENSP00000361294.4:p.Gly244Ala | |
| ENST00000372228.7:c.1934G>C | ENSP00000361302.3:p.Gly645Ala | |
| ENST00000402686.7:c.1868G>C | ENSP00000385797.3:p.Gly623Ala | |
| ENST00000404875.6:c.1517G>C | ENSP00000384531.2:p.Gly506Ala | |
| ENST00000423007.5:c.1868G>C | ENSP00000404119.1:p.Gly623Ala | |
| ENST00000485278.5:n.2418G>C | ||
| ENST00000494883.1:n.411G>C | ||
| NM_001077365.1:c.1868G>C | NP_001070833.1:p.Gly623Ala | |
| NM_001077366.1:c.1706G>C | NP_001070834.1:p.Gly569Ala | |
| NM_001136113.1:c.1868G>C | NP_001129585.1:p.Gly623Ala | |
| NM_001136114.1:c.1517G>C | NP_001129586.1:p.Gly506Ala | |
| NM_007171.3:c.1934G>C | NP_009102.3:p.Gly645Ala | |
| XM_005272156.1:c.1934G>C | XP_005272213.1:p.Gly645Ala | |
| XM_005272158.1:c.1772G>C | XP_005272215.1:p.Gly591Ala | |
| XM_005272159.1:c.1583G>C | XP_005272216.1:p.Gly528Ala | |
| XM_005272162.1:c.737G>C | XP_005272219.1:p.Gly246Ala | |
| XM_006716932.1:c.1583G>C | XP_006716995.1:p.Gly528Ala | |
| XM_011518140.1:c.1787G>C | XP_011516442.1:p.Gly596Ala | |
| XM_011518141.1:c.1721G>C | XP_011516443.1:p.Gly574Ala | |
| XM_011518142.1:c.1625G>C | XP_011516444.1:p.Gly542Ala | |
| XM_011518143.1:c.1619G>C | XP_011516445.1:p.Gly540Ala | |
| XM_011518145.1:c.1478G>C | XP_011516447.1:p.Gly493Ala | |
| XM_011518147.1:c.806G>C | XP_011516449.1:p.Gly269Ala | |
| XR_929703.1:n.2110G>C | ||
| NM_001353193.1:c.1934G>C | NP_001340122.1:p.Gly645Ala | |
| NM_001353194.1:c.1706G>C | NP_001340123.1:p.Gly569Ala | |
| NM_001353195.1:c.1517G>C | NP_001340124.1:p.Gly506Ala | |
| NM_001353196.1:c.1778G>C | NP_001340125.1:p.Gly593Ala | |
| NM_001353197.1:c.1772G>C | NP_001340126.1:p.Gly591Ala | |
| NM_001353198.1:c.1772G>C | NP_001340127.1:p.Gly591Ala | |
| NM_001353199.1:c.1583G>C | NP_001340128.1:p.Gly528Ala | |
| NM_001353200.1:c.1412G>C | NP_001340129.1:p.Gly471Ala | |
| NR_148391.1:n.1918G>C | ||
| NR_148392.1:n.2136G>C | ||
| NR_148393.1:n.2057G>C | ||
| NR_148394.1:n.1811G>C | ||
| NR_148395.1:n.2209G>C | ||
| NR_148396.1:n.1843G>C | ||
| NR_148397.1:n.1968G>C | ||
| NR_148398.1:n.1923G>C | ||
| NR_148399.1:n.2449G>C | ||
| NR_148400.1:n.2048G>C | ||
| XM_005272162.3:c.737G>C | XP_005272219.1:p.Gly246Ala | |
| XM_006716932.2:c.1583G>C | XP_006716995.1:p.Gly528Ala | |
| XM_011518140.2:c.1787G>C | XP_011516442.1:p.Gly596Ala | |
| XM_011518141.2:c.1721G>C | XP_011516443.1:p.Gly574Ala | |
| XM_011518142.2:c.1625G>C | XP_011516444.1:p.Gly542Ala | |
| XM_011518143.2:c.1619G>C | XP_011516445.1:p.Gly540Ala | |
| XM_011518145.2:c.1478G>C | XP_011516447.1:p.Gly493Ala | |
| XM_017014205.2:c.737G>C | XP_016869694.1:p.Gly246Ala | |
| XM_024447380.1:c.737G>C | XP_024303148.1:p.Gly246Ala | |
| XM_024447381.1:c.1043G>C | XP_024303149.1:p.Gly348Ala | |
| XM_024447382.1:c.737G>C | XP_024303150.1:p.Gly246Ala | |
| XR_001746160.2:n.2038G>C | ||
| XR_001746162.2:n.2243G>C | ||
| XR_001746164.1:n.1960G>C | ||
| XR_001746166.2:n.2255G>C | ||
| NM_001077365.2:c.1868G>C MANE Select | NP_001070833.1:p.Gly623Ala | |
| NM_001077366.2:c.1706G>C | NP_001070834.1:p.Gly569Ala | |
| NM_001136113.2:c.1868G>C | NP_001129585.1:p.Gly623Ala | |
| NM_001136114.2:c.1517G>C | NP_001129586.1:p.Gly506Ala | |
| NM_001353193.2:c.1934G>C | NP_001340122.2:p.Gly645Ala | |
| NM_001353194.2:c.1706G>C | NP_001340123.1:p.Gly569Ala | |
| NM_001353195.2:c.1517G>C | NP_001340124.1:p.Gly506Ala | |
| NM_001353196.2:c.1778G>C | NP_001340125.1:p.Gly593Ala | |
| NM_001353197.2:c.1772G>C | NP_001340126.2:p.Gly591Ala | |
| NM_001353198.2:c.1772G>C | NP_001340127.2:p.Gly591Ala | |
| NM_001353199.2:c.1583G>C | NP_001340128.2:p.Gly528Ala | |
| NM_001353200.2:c.1412G>C | NP_001340129.1:p.Gly471Ala | |
| NM_001374689.1:c.1856G>C | NP_001361618.1:p.Gly619Ala | |
| NM_001374690.1:c.1649G>C | NP_001361619.1:p.Gly550Ala | |
| NM_001374691.1:c.1517G>C | NP_001361620.1:p.Gly506Ala | |
| NM_001374692.1:c.1517G>C | NP_001361621.1:p.Gly506Ala | |
| NM_001374693.1:c.1517G>C | NP_001361622.1:p.Gly506Ala | |
| NM_001374695.1:c.1478G>C | NP_001361624.1:p.Gly493Ala | |
| NM_007171.4:c.1934G>C | NP_009102.4:p.Gly645Ala | |
| NR_148391.2:n.1902G>C | ||
| NR_148392.2:n.2120G>C | ||
| NR_148393.2:n.2041G>C | ||
| NR_148394.2:n.1795G>C | ||
| NR_148395.2:n.2193G>C | ||
| NR_148396.2:n.1827G>C | ||
| NR_148397.2:n.1952G>C | ||
| NR_148398.2:n.1907G>C | ||
| NR_148399.2:n.2433G>C | ||
| NR_148400.2:n.2032G>C |