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.131518506T>A , CM000671.2:g.131518506T>A | GRCh38 |
| NC_000009.11:g.134393893T>A , CM000671.1:g.134393893T>A | GRCh37 |
| NC_000009.10:g.133383714T>A | NCBI36 |
| NG_008896.1:g.20605T>A | |
| NG_008896.2:g.20605T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000341012.13:c.1172T>A | ENSP00000343034.7:p.Phe391Tyr | |
| ENST00000404875.7:n.1874T>A | ||
| ENST00000423007.6:c.1391T>A | ENSP00000404119.2:p.Phe464Tyr | |
| ENST00000677295.2:c.*1678T>A | ENSP00000504346.2:n.*1678T>A | |
| ENST00000678264.2:c.*1517T>A | ENSP00000503157.2:n.*1517T>A | |
| ENST00000682070.1:n.1799T>A | ||
| ENST00000682535.1:n.106T>A | ||
| ENST00000682539.1:c.272T>A | ||
| ENST00000682813.1:n.1599T>A | ||
| ENST00000683110.1:n.62T>A | ||
| ENST00000683392.1:n.4081T>A | ||
| ENST00000683712.1:n.1739T>A | ||
| ENST00000683900.1:n.3234T>A | ||
| ENST00000684062.1:n.2000T>A | ||
| ENST00000684579.1:n.3180T>A | ||
| ENST00000684679.1:n.561T>A | ||
| ENST00000341012.12:c.1172T>A | ENSP00000343034.7:p.Phe391Tyr | |
| ENST00000372220.5:c.203T>A | ENSP00000361294.5:p.Phe68Tyr | |
| ENST00000372228.9:c.1400T>A | ENSP00000361302.3:p.Phe467Tyr | |
| ENST00000402686.8:c.1334T>A MANE Select | ENSP00000385797.4:p.Phe445Tyr | |
| ENST00000676640.1:c.1334T>A | ENSP00000503281.1:p.Phe445Tyr | |
| ENST00000676803.1:c.509T>A | ENSP00000503093.1:p.Phe170Tyr | |
| ENST00000676835.1:c.*549T>A | ENSP00000502911.1:n.*549T>A | |
| ENST00000677029.1:c.878T>A | ENSP00000502936.1:p.Phe293Tyr | |
| ENST00000677099.1:c.*1044T>A | ENSP00000504553.1:n.*1044T>A | |
| ENST00000677216.1:c.983T>A | ENSP00000503772.1:p.Phe328Tyr | |
| ENST00000677221.1:n.359T>A | ||
| ENST00000677295.1:c.*711T>A | ENSP00000504346.1:n.*711T>A | |
| ENST00000677444.1:c.1140T>A | ||
| ENST00000677586.1:n.815T>A | ||
| ENST00000677626.1:c.983T>A | ENSP00000503552.1:p.Phe328Tyr | |
| ENST00000677677.1:n.1294T>A | ||
| ENST00000677853.1:c.*342T>A | ENSP00000503488.1:n.*342T>A | |
| ENST00000677983.1:n.423T>A | ||
| ENST00000678202.1:n.354T>A | ||
| ENST00000678264.1:c.*711T>A | ENSP00000503157.1:n.*711T>A | |
| ENST00000678303.1:c.1244T>A | ENSP00000503696.1:p.Phe415Tyr | |
| ENST00000678366.1:c.*1583T>A | ENSP00000504353.1:n.*1583T>A | |
| ENST00000678546.1:c.*1279T>A | ENSP00000503062.1:n.*1279T>A | |
| ENST00000678548.1:c.*1406T>A | ENSP00000503934.1:n.*1406T>A | |
| ENST00000678626.1:n.1031T>A | ||
| ENST00000678733.1:c.415T>A | ||
| ENST00000678739.1:c.*1660T>A | ENSP00000503806.1:n.*1660T>A | |
| ENST00000678795.1:n.421T>A | ||
| ENST00000678833.1:c.*781T>A | ENSP00000503893.1:n.*781T>A | |
| ENST00000678942.1:c.514T>A | ENSP00000504690.1:n.514T>A | |
| ENST00000679023.1:c.1172T>A | ENSP00000503718.1:p.Phe391Tyr | |
| ENST00000679076.1:c.953T>A | ||
| ENST00000679111.1:c.1334T>A | ENSP00000504257.1:p.Phe445Tyr | |
| ENST00000679189.1:c.983T>A | ENSP00000503356.1:p.Phe328Tyr | |
| ENST00000341012.11:c.1172T>A | ENSP00000343034.7:p.Phe391Tyr | |
| ENST00000372220.4:c.197T>A | ENSP00000361294.4:p.Phe66Tyr | |
| ENST00000372228.7:c.1400T>A | ENSP00000361302.3:p.Phe467Tyr | |
| ENST00000402686.7:c.1334T>A | ENSP00000385797.3:p.Phe445Tyr | |
| ENST00000404875.6:c.983T>A | ENSP00000384531.2:p.Phe328Tyr | |
| ENST00000423007.5:c.1334T>A | ENSP00000404119.1:p.Phe445Tyr | |
| ENST00000485278.5:n.1889T>A | ||
| NM_001077365.1:c.1334T>A | NP_001070833.1:p.Phe445Tyr | |
| NM_001077366.1:c.1172T>A | NP_001070834.1:p.Phe391Tyr | |
| NM_001136113.1:c.1334T>A | NP_001129585.1:p.Phe445Tyr | |
| NM_001136114.1:c.983T>A | NP_001129586.1:p.Phe328Tyr | |
| NM_007171.3:c.1400T>A | NP_009102.3:p.Phe467Tyr | |
| XM_005272156.1:c.1400T>A | XP_005272213.1:p.Phe467Tyr | |
| XM_005272158.1:c.1238T>A | XP_005272215.1:p.Phe413Tyr | |
| XM_005272159.1:c.1049T>A | XP_005272216.1:p.Phe350Tyr | |
| XM_005272162.1:c.203T>A | XP_005272219.1:p.Phe68Tyr | |
| XM_006716932.1:c.1049T>A | XP_006716995.1:p.Phe350Tyr | |
| XM_011518140.1:c.1253T>A | XP_011516442.1:p.Phe418Tyr | |
| XM_011518141.1:c.1187T>A | XP_011516443.1:p.Phe396Tyr | |
| XM_011518142.1:c.1091T>A | XP_011516444.1:p.Phe364Tyr | |
| XM_011518143.1:c.1085T>A | XP_011516445.1:p.Phe362Tyr | |
| XM_011518144.1:c.1400T>A | XP_011516446.1:p.Phe467Tyr | |
| XM_011518145.1:c.944T>A | XP_011516447.1:p.Phe315Tyr | |
| XM_011518146.1:c.1085T>A | XP_011516448.1:p.Phe362Tyr | |
| XM_011518147.1:c.272T>A | XP_011516449.1:p.Phe91Tyr | |
| XR_929703.1:n.1576T>A | ||
| NM_001353193.1:c.1400T>A | NP_001340122.1:p.Phe467Tyr | |
| NM_001353194.1:c.1172T>A | NP_001340123.1:p.Phe391Tyr | |
| NM_001353195.1:c.983T>A | NP_001340124.1:p.Phe328Tyr | |
| NM_001353196.1:c.1244T>A | NP_001340125.1:p.Phe415Tyr | |
| NM_001353197.1:c.1238T>A | NP_001340126.1:p.Phe413Tyr | |
| NM_001353198.1:c.1238T>A | NP_001340127.1:p.Phe413Tyr | |
| NM_001353199.1:c.1049T>A | NP_001340128.1:p.Phe350Tyr | |
| NM_001353200.1:c.878T>A | NP_001340129.1:p.Phe293Tyr | |
| NR_148391.1:n.1384T>A | ||
| NR_148392.1:n.1602T>A | ||
| NR_148393.1:n.1384T>A | ||
| NR_148394.1:n.1277T>A | ||
| NR_148395.1:n.1536T>A | ||
| NR_148396.1:n.1170T>A | ||
| NR_148397.1:n.1434T>A | ||
| NR_148398.1:n.1389T>A | ||
| NR_148399.1:n.1776T>A | ||
| NR_148400.1:n.1375T>A | ||
| XM_005272162.3:c.203T>A | XP_005272219.1:p.Phe68Tyr | |
| XM_006716932.2:c.1049T>A | XP_006716995.1:p.Phe350Tyr | |
| XM_011518140.2:c.1253T>A | XP_011516442.1:p.Phe418Tyr | |
| XM_011518141.2:c.1187T>A | XP_011516443.1:p.Phe396Tyr | |
| XM_011518142.2:c.1091T>A | XP_011516444.1:p.Phe364Tyr | |
| XM_011518143.2:c.1085T>A | XP_011516445.1:p.Phe362Tyr | |
| XM_011518145.2:c.944T>A | XP_011516447.1:p.Phe315Tyr | |
| XM_017014205.2:c.203T>A | XP_016869694.1:p.Phe68Tyr | |
| XM_024447380.1:c.203T>A | XP_024303148.1:p.Phe68Tyr | |
| XM_024447381.1:c.509T>A | XP_024303149.1:p.Phe170Tyr | |
| XM_024447382.1:c.203T>A | XP_024303150.1:p.Phe68Tyr | |
| XR_001746160.2:n.1504T>A | ||
| XR_001746162.2:n.1570T>A | ||
| XR_001746164.1:n.1287T>A | ||
| XR_001746166.2:n.1721T>A | ||
| NM_001077365.2:c.1334T>A MANE Select | NP_001070833.1:p.Phe445Tyr | |
| NM_001077366.2:c.1172T>A | NP_001070834.1:p.Phe391Tyr | |
| NM_001136113.2:c.1334T>A | NP_001129585.1:p.Phe445Tyr | |
| NM_001136114.2:c.983T>A | NP_001129586.1:p.Phe328Tyr | |
| NM_001353193.2:c.1400T>A | NP_001340122.2:p.Phe467Tyr | |
| NM_001353194.2:c.1172T>A | NP_001340123.1:p.Phe391Tyr | |
| NM_001353195.2:c.983T>A | NP_001340124.1:p.Phe328Tyr | |
| NM_001353196.2:c.1244T>A | NP_001340125.1:p.Phe415Tyr | |
| NM_001353197.2:c.1238T>A | NP_001340126.2:p.Phe413Tyr | |
| NM_001353198.2:c.1238T>A | NP_001340127.2:p.Phe413Tyr | |
| NM_001353199.2:c.1049T>A | NP_001340128.2:p.Phe350Tyr | |
| NM_001353200.2:c.878T>A | NP_001340129.1:p.Phe293Tyr | |
| NM_001374689.1:c.1322T>A | NP_001361618.1:p.Phe441Tyr | |
| NM_001374690.1:c.1334T>A | NP_001361619.1:p.Phe445Tyr | |
| NM_001374691.1:c.983T>A | NP_001361620.1:p.Phe328Tyr | |
| NM_001374692.1:c.983T>A | NP_001361621.1:p.Phe328Tyr | |
| NM_001374693.1:c.983T>A | NP_001361622.1:p.Phe328Tyr | |
| NM_001374695.1:c.944T>A | NP_001361624.1:p.Phe315Tyr | |
| NM_007171.4:c.1400T>A | NP_009102.4:p.Phe467Tyr | |
| NR_148391.2:n.1368T>A | ||
| NR_148392.2:n.1586T>A | ||
| NR_148393.2:n.1368T>A | ||
| NR_148394.2:n.1261T>A | ||
| NR_148395.2:n.1520T>A | ||
| NR_148396.2:n.1154T>A | ||
| NR_148397.2:n.1418T>A | ||
| NR_148398.2:n.1373T>A | ||
| NR_148399.2:n.1760T>A | ||
| NR_148400.2:n.1359T>A |