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_000006.12:g.72333642A= , CM000668.2:g.72333642A= | GRCh38 |
| NC_000006.11:g.73043345A= , CM000668.1:g.73043345A= | GRCh37 |
| NC_000006.10:g.73100066A= | NCBI36 |
| NG_016209.1:g.451696A= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000697193.1:c.3642A= | ENSP00000513179.1:p.Ser1214= | |
| ENST00000521978.6:c.4173A= MANE Select | ENSP00000428417.1:p.Ser1391= | |
| ENST00000264839.11:c.3720A= | ENSP00000264839.7:p.Ser1240= | |
| ENST00000370420.8:c.1317A= | ENSP00000359448.4:p.Ser439= | |
| ENST00000401910.7:c.2133A= | ENSP00000385649.3:p.Ser711= | |
| ENST00000425662.6:c.1570+41596A= | ENSP00000411235.2:n.1570+41596A= | |
| ENST00000453976.6:c.1668A= | ENSP00000389503.2:p.Ser556= | |
| ENST00000463023.6:n.254+41596A= | ||
| ENST00000491071.6:c.3642A= | ENSP00000430101.1:p.Ser1214= | |
| ENST00000517433.5:c.2209A= | ||
| ENST00000517827.5:c.1768+41596A= | ENSP00000428367.1:n.1768+41596A= | |
| ENST00000517960.5:c.3522A= | ENSP00000429959.1:p.Ser1174= | |
| ENST00000518273.5:c.3403+41596A= | ENSP00000430408.1:n.3403+41596A= | |
| ENST00000520567.5:c.3316+41596A= | ENSP00000430502.1:n.3316+41596A= | |
| ENST00000521978.5:c.4173A= | ENSP00000428417.1:p.Ser1391= | |
| ENST00000522211.5:c.926A= | ||
| ENST00000522291.5:c.3163+41596A= | ENSP00000430932.1:n.3163+41596A= | |
| ENST00000523963.5:c.1741+41596A= | ENSP00000428328.1:n.1741+41596A= | |
| NM_001168407.1:c.2133A= | NP_001161879.1:p.Ser711= | |
| NM_001168408.1:c.1741+41596A= | NP_001161880.1:n.1741+41596A= | |
| NM_001168409.1:c.1570+41596A= | NP_001161881.1:n.1570+41596A= | |
| NM_001168410.1:c.1768+41596A= | NP_001161882.1:n.1768+41596A= | |
| NM_014989.5:c.4173A= | NP_055804.2:p.Ser1391= | |
| XM_005248688.2:c.3642A= | XP_005248745.1:p.Ser1214= | |
| XM_011535602.1:c.2346A= | XP_011533904.1:p.Ser782= | |
| XM_011535603.1:c.2193A= | XP_011533905.1:p.Ser731= | |
| XM_011535604.1:c.2130A= | XP_011533906.1:p.Ser710= | |
| XM_011535605.1:c.4119A= | XP_011533907.1:p.Ser1373= | |
| XM_011535606.1:c.2091A= | XP_011533908.1:p.Ser697= | |
| XM_011535607.1:c.2073A= | XP_011533909.1:p.Ser691= | |
| XM_011535608.1:c.2010A= | XP_011533910.1:p.Ser670= | |
| XM_011535609.1:c.1941A= | XP_011533911.1:p.Ser647= | |
| XM_011535610.1:c.1938A= | XP_011533912.1:p.Ser646= | |
| XM_011535611.1:c.1905A= | XP_011533913.1:p.Ser635= | |
| XM_011535612.1:c.1810+41596A= | XP_011533914.1:n.1810+41596A= | |
| XM_011535613.1:c.1738+41596A= | XP_011533915.1:n.1738+41596A= | |
| XM_011535615.1:c.1735+41596A= | XP_011533917.1:n.1735+41596A= | |
| XM_011535616.1:c.1720+41596A= | XP_011533918.1:n.1720+41596A= | |
| XM_011535617.1:c.1582+41596A= | XP_011533919.1:n.1582+41596A= | |
| XM_011535618.1:c.465A= | XP_011533920.1:p.Ser155= | |
| NM_001350414.1:c.2094A= | NP_001337343.1:p.Ser698= | |
| NM_001350415.1:c.2190A= | NP_001337344.1:p.Ser730= | |
| NM_001350416.1:c.2139A= | NP_001337345.1:p.Ser713= | |
| NM_001350417.1:c.1813+41596A= | NP_001337346.1:n.1813+41596A= | |
| NM_001350418.1:c.2112A= | NP_001337347.1:p.Ser704= | |
| NM_001350419.1:c.1585+41596A= | NP_001337348.1:n.1585+41596A= | |
| NM_001350420.1:c.2247A= | NP_001337349.1:p.Ser749= | |
| NM_001350421.1:c.1992A= | NP_001337350.1:p.Ser664= | |
| NM_001350422.1:c.1810+41596A= | NP_001337351.1:n.1810+41596A= | |
| NM_001350423.1:c.1881A= | NP_001337352.1:p.Ser627= | |
| NM_001350424.1:c.1672+41596A= | NP_001337353.1:n.1672+41596A= | |
| NM_001350425.1:c.2091A= | NP_001337354.1:p.Ser697= | |
| NM_001350426.1:c.1660+41596A= | NP_001337355.1:n.1660+41596A= | |
| NM_001350427.1:c.1738+41596A= | NP_001337356.1:n.1738+41596A= | |
| NM_001350428.1:c.1744+41596A= | NP_001337357.1:n.1744+41596A= | |
| NM_001350429.1:c.1911A= | NP_001337358.1:p.Ser637= | |
| NM_001350430.1:c.1741+41596A= | NP_001337359.1:n.1741+41596A= | |
| NM_001350431.1:c.2229A= | NP_001337360.1:p.Ser743= | |
| NM_001350432.1:c.1648+41596A= | NP_001337361.1:n.1648+41596A= | |
| NM_001350433.1:c.2220A= | NP_001337362.1:p.Ser740= | |
| NM_001350434.1:c.1888+41596A= | NP_001337363.1:n.1888+41596A= | |
| NM_001350435.1:c.2082A= | NP_001337364.1:p.Ser694= | |
| NM_001350436.1:c.2325A= | NP_001337365.1:p.Ser775= | |
| NM_001350437.1:c.2076A= | NP_001337366.1:p.Ser692= | |
| NM_001350438.1:c.1993+41596A= | NP_001337367.1:n.1993+41596A= | |
| NM_001350439.1:c.2064A= | NP_001337368.1:p.Ser688= | |
| NM_001350440.1:c.1657+41596A= | NP_001337369.1:n.1657+41596A= | |
| NM_001350441.1:c.2061A= | NP_001337370.1:p.Ser687= | |
| NM_001350442.1:c.1996+41596A= | NP_001337371.1:n.1996+41596A= | |
| NM_001350443.1:c.2034A= | NP_001337372.1:p.Ser678= | |
| NM_001350444.1:c.1908A= | NP_001337373.1:p.Ser636= | |
| NM_001350445.1:c.1894+41596A= | NP_001337374.1:n.1894+41596A= | |
| NM_001350446.1:c.2319A= | NP_001337375.1:p.Ser773= | |
| NM_001350447.1:c.1980A= | NP_001337376.1:p.Ser660= | |
| NM_001350448.1:c.2136A= | NP_001337377.1:p.Ser712= | |
| NM_001350449.1:c.1720+41596A= | NP_001337378.1:n.1720+41596A= | |
| NM_001350450.1:c.1669+41596A= | NP_001337379.1:n.1669+41596A= | |
| NM_001350454.1:c.2043A= | NP_001337383.1:p.Ser681= | |
| NM_001350455.1:c.1588+41596A= | NP_001337384.1:n.1588+41596A= | |
| NM_001350456.1:c.2316A= | NP_001337385.1:p.Ser772= | |
| NM_001350457.1:c.2073A= | NP_001337386.1:p.Ser691= | |
| NM_001350458.1:c.2142A= | NP_001337387.1:p.Ser714= | |
| NM_001350459.1:c.1995A= | NP_001337388.1:p.Ser665= | |
| NM_001350460.1:c.2013A= | NP_001337389.1:p.Ser671= | |
| NM_001350461.1:c.1863A= | NP_001337390.1:p.Ser621= | |
| NM_001350462.1:c.2178A= | NP_001337391.1:p.Ser726= | |
| NM_001350463.1:c.1818A= | NP_001337392.1:p.Ser606= | |
| NM_001350464.1:c.1821A= | NP_001337393.1:p.Ser607= | |
| NM_001350465.1:c.1498+41596A= | NP_001337394.1:n.1498+41596A= | |
| NM_001350466.1:c.1824A= | NP_001337395.1:p.Ser608= | |
| NM_001350467.1:c.1740A= | NP_001337396.1:p.Ser580= | |
| NM_001350468.1:c.1665A= | NP_001337397.1:p.Ser555= | |
| NM_001350469.1:c.1893A= | NP_001337398.1:p.Ser631= | |
| NM_001350470.1:c.1774+41596A= | NP_001337399.1:n.1774+41596A= | |
| NM_001350471.1:c.1974A= | NP_001337400.1:p.Ser658= | |
| NM_001350472.1:c.1693+41596A= | NP_001337401.1:n.1693+41596A= | |
| NM_001350473.1:c.1696+41596A= | NP_001337402.1:n.1696+41596A= | |
| NM_001350474.1:c.1866A= | NP_001337403.1:p.Ser622= | |
| XM_005248688.4:c.3642A= | XP_005248745.1:p.Ser1214= | |
| XM_011535604.3:c.3711A= | XP_011533906.2:p.Ser1237= | |
| XM_017010516.2:c.3960A= | XP_016866005.1:p.Ser1320= | |
| XM_017010517.2:c.3867A= | XP_016866006.1:p.Ser1289= | |
| XM_017010518.2:c.3864A= | XP_016866007.1:p.Ser1288= | |
| XM_017010519.2:c.3807A= | XP_016866008.1:p.Ser1269= | |
| XM_017010520.2:c.3795A= | XP_016866009.1:p.Ser1265= | |
| XM_017010521.2:c.3777A= | XP_016866010.1:p.Ser1259= | |
| XM_017010522.2:c.3714A= | XP_016866011.1:p.Ser1238= | |
| XM_017010523.2:c.3687A= | XP_016866012.1:p.Ser1229= | |
| XM_017010524.2:c.3669A= | XP_016866013.1:p.Ser1223= | |
| XM_017010525.2:c.3654A= | XP_016866014.1:p.Ser1218= | |
| XM_017010526.2:c.3642A= | XP_016866015.1:p.Ser1214= | |
| XM_017010527.2:c.3639A= | XP_016866016.1:p.Ser1213= | |
| XM_017010537.2:c.2217A= | XP_016866026.1:p.Ser739= | |
| XM_017010544.2:c.2061A= | XP_016866033.1:p.Ser687= | |
| XM_017010546.2:c.2037A= | XP_016866035.1:p.Ser679= | |
| XM_017010556.2:c.291A= | XP_016866045.1:p.Ser97= | |
| XM_017010557.2:c.123A= | XP_016866046.1:p.Ser41= | |
| XM_017010558.2:c.123A= | XP_016866047.1:p.Ser41= | |
| XM_024446369.1:c.4047A= | XP_024302137.1:p.Ser1349= | |
| XM_024446370.1:c.3684A= | XP_024302138.1:p.Ser1228= | |
| XM_024446371.1:c.3645A= | XP_024302139.1:p.Ser1215= | |
| XM_024446372.1:c.2214A= | XP_024302140.1:p.Ser738= | |
| NM_001168407.2:c.2133A= | NP_001161879.1:p.Ser711= | |
| NM_001168408.2:c.1741+41596A= | NP_001161880.1:n.1741+41596A= | |
| NM_001168409.2:c.1570+41596A= | NP_001161881.1:n.1570+41596A= | |
| NM_001168410.2:c.1768+41596A= | NP_001161882.1:n.1768+41596A= | |
| NM_001350414.2:c.2094A= | NP_001337343.1:p.Ser698= | |
| NM_001350415.2:c.2190A= | NP_001337344.1:p.Ser730= | |
| NM_001350416.2:c.2139A= | NP_001337345.1:p.Ser713= | |
| NM_001350417.2:c.1813+41596A= | NP_001337346.1:n.1813+41596A= | |
| NM_001350418.2:c.2112A= | NP_001337347.1:p.Ser704= | |
| NM_001350419.2:c.1585+41596A= | NP_001337348.1:n.1585+41596A= | |
| NM_001350420.2:c.2247A= | NP_001337349.1:p.Ser749= | |
| NM_001350421.2:c.1992A= | NP_001337350.1:p.Ser664= | |
| NM_001350422.2:c.1810+41596A= | NP_001337351.1:n.1810+41596A= | |
| NM_001350423.2:c.1881A= | NP_001337352.1:p.Ser627= | |
| NM_001350424.2:c.1672+41596A= | NP_001337353.1:n.1672+41596A= | |
| NM_001350425.2:c.2091A= | NP_001337354.1:p.Ser697= | |
| NM_001350426.2:c.1660+41596A= | NP_001337355.1:n.1660+41596A= | |
| NM_001350427.2:c.1738+41596A= | NP_001337356.1:n.1738+41596A= | |
| NM_001350428.2:c.1744+41596A= | NP_001337357.1:n.1744+41596A= | |
| NM_001350429.2:c.1911A= | NP_001337358.1:p.Ser637= | |
| NM_001350430.2:c.1741+41596A= | NP_001337359.1:n.1741+41596A= | |
| NM_001350431.2:c.2229A= | NP_001337360.1:p.Ser743= | |
| NM_001350432.2:c.1648+41596A= | NP_001337361.1:n.1648+41596A= | |
| NM_001350433.2:c.2220A= | NP_001337362.1:p.Ser740= | |
| NM_001350434.2:c.1888+41596A= | NP_001337363.1:n.1888+41596A= | |
| NM_001350435.2:c.2082A= | NP_001337364.1:p.Ser694= | |
| NM_001350436.2:c.2325A= | NP_001337365.1:p.Ser775= | |
| NM_001350437.2:c.2076A= | NP_001337366.1:p.Ser692= | |
| NM_001350438.2:c.1993+41596A= | NP_001337367.1:n.1993+41596A= | |
| NM_001350439.2:c.2064A= | NP_001337368.1:p.Ser688= | |
| NM_001350440.2:c.1657+41596A= | NP_001337369.1:n.1657+41596A= | |
| NM_001350441.2:c.2061A= | NP_001337370.1:p.Ser687= | |
| NM_001350442.2:c.1996+41596A= | NP_001337371.1:n.1996+41596A= | |
| NM_001350443.2:c.2034A= | NP_001337372.1:p.Ser678= | |
| NM_001350444.2:c.1908A= | NP_001337373.1:p.Ser636= | |
| NM_001350445.2:c.1894+41596A= | NP_001337374.1:n.1894+41596A= | |
| NM_001350446.2:c.2319A= | NP_001337375.1:p.Ser773= | |
| NM_001350447.2:c.1980A= | NP_001337376.1:p.Ser660= | |
| NM_001350448.2:c.2136A= | NP_001337377.1:p.Ser712= | |
| NM_001350449.2:c.1720+41596A= | NP_001337378.1:n.1720+41596A= | |
| NM_001350450.2:c.1669+41596A= | NP_001337379.1:n.1669+41596A= | |
| NM_001350454.2:c.2043A= | NP_001337383.1:p.Ser681= | |
| NM_001350455.2:c.1588+41596A= | NP_001337384.1:n.1588+41596A= | |
| NM_001350456.2:c.2316A= | NP_001337385.1:p.Ser772= | |
| NM_001350457.2:c.2073A= | NP_001337386.1:p.Ser691= | |
| NM_001350458.2:c.2142A= | NP_001337387.1:p.Ser714= | |
| NM_001350459.2:c.1995A= | NP_001337388.1:p.Ser665= | |
| NM_001350460.2:c.2013A= | NP_001337389.1:p.Ser671= | |
| NM_001350461.2:c.1863A= | NP_001337390.1:p.Ser621= | |
| NM_001350462.2:c.2178A= | NP_001337391.1:p.Ser726= | |
| NM_001350463.2:c.1818A= | NP_001337392.1:p.Ser606= | |
| NM_001350464.2:c.1821A= | NP_001337393.1:p.Ser607= | |
| NM_001350465.2:c.1498+41596A= | NP_001337394.1:n.1498+41596A= | |
| NM_001350466.2:c.1824A= | NP_001337395.1:p.Ser608= | |
| NM_001350467.2:c.1740A= | NP_001337396.1:p.Ser580= | |
| NM_001350468.2:c.1665A= | NP_001337397.1:p.Ser555= | |
| NM_001350469.2:c.1893A= | NP_001337398.1:p.Ser631= | |
| NM_001350470.2:c.1774+41596A= | NP_001337399.1:n.1774+41596A= | |
| NM_001350471.2:c.1974A= | NP_001337400.1:p.Ser658= | |
| NM_001350472.2:c.1693+41596A= | NP_001337401.1:n.1693+41596A= | |
| NM_001350473.2:c.1696+41596A= | NP_001337402.1:n.1696+41596A= | |
| NM_001350474.2:c.1866A= | NP_001337403.1:p.Ser622= | |
| NM_014989.7:c.4173A= MANE Select | NP_055804.2:p.Ser1391= |