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
gnomAD v4:
6-72333638-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.72333638C>A , CM000668.2:g.72333638C>A | GRCh38 |
| NC_000006.11:g.73043341C>A , CM000668.1:g.73043341C>A | GRCh37 |
| NC_000006.10:g.73100062C>A | NCBI36 |
| NG_016209.1:g.451692C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000697193.1:c.3638C>A | ENSP00000513179.1:p.Thr1213Asn | |
| ENST00000521978.6:c.4169C>A MANE Select | ENSP00000428417.1:p.Thr1390Asn | |
| ENST00000264839.11:c.3716C>A | ENSP00000264839.7:p.Thr1239Asn | |
| ENST00000370420.8:c.1313C>A | ENSP00000359448.4:p.Thr438Asn | |
| ENST00000401910.7:c.2129C>A | ENSP00000385649.3:p.Thr710Asn | |
| ENST00000425662.6:c.1570+41592C>A | ENSP00000411235.2:n.1570+41592C>A | |
| ENST00000453976.6:c.1664C>A | ENSP00000389503.2:p.Thr555Asn | |
| ENST00000463023.6:n.254+41592C>A | ||
| ENST00000491071.6:c.3638C>A | ENSP00000430101.1:p.Thr1213Asn | |
| ENST00000517433.5:c.2205C>A | ||
| ENST00000517827.5:c.1768+41592C>A | ENSP00000428367.1:n.1768+41592C>A | |
| ENST00000517960.5:c.3518C>A | ENSP00000429959.1:p.Thr1173Asn | |
| ENST00000518273.5:c.3403+41592C>A | ENSP00000430408.1:n.3403+41592C>A | |
| ENST00000520567.5:c.3316+41592C>A | ENSP00000430502.1:n.3316+41592C>A | |
| ENST00000521978.5:c.4169C>A | ENSP00000428417.1:p.Thr1390Asn | |
| ENST00000522211.5:c.922C>A | ||
| ENST00000522291.5:c.3163+41592C>A | ENSP00000430932.1:n.3163+41592C>A | |
| ENST00000523963.5:c.1741+41592C>A | ENSP00000428328.1:n.1741+41592C>A | |
| NM_001168407.1:c.2129C>A | NP_001161879.1:p.Thr710Asn | |
| NM_001168408.1:c.1741+41592C>A | NP_001161880.1:n.1741+41592C>A | |
| NM_001168409.1:c.1570+41592C>A | NP_001161881.1:n.1570+41592C>A | |
| NM_001168410.1:c.1768+41592C>A | NP_001161882.1:n.1768+41592C>A | |
| NM_014989.5:c.4169C>A | NP_055804.2:p.Thr1390Asn | |
| XM_005248688.2:c.3638C>A | XP_005248745.1:p.Thr1213Asn | |
| XM_011535602.1:c.2342C>A | XP_011533904.1:p.Thr781Asn | |
| XM_011535603.1:c.2189C>A | XP_011533905.1:p.Thr730Asn | |
| XM_011535604.1:c.2126C>A | XP_011533906.1:p.Thr709Asn | |
| XM_011535605.1:c.4115C>A | XP_011533907.1:p.Thr1372Asn | |
| XM_011535606.1:c.2087C>A | XP_011533908.1:p.Thr696Asn | |
| XM_011535607.1:c.2069C>A | XP_011533909.1:p.Thr690Asn | |
| XM_011535608.1:c.2006C>A | XP_011533910.1:p.Thr669Asn | |
| XM_011535609.1:c.1937C>A | XP_011533911.1:p.Thr646Asn | |
| XM_011535610.1:c.1934C>A | XP_011533912.1:p.Thr645Asn | |
| XM_011535611.1:c.1901C>A | XP_011533913.1:p.Thr634Asn | |
| XM_011535612.1:c.1810+41592C>A | XP_011533914.1:n.1810+41592C>A | |
| XM_011535613.1:c.1738+41592C>A | XP_011533915.1:n.1738+41592C>A | |
| XM_011535615.1:c.1735+41592C>A | XP_011533917.1:n.1735+41592C>A | |
| XM_011535616.1:c.1720+41592C>A | XP_011533918.1:n.1720+41592C>A | |
| XM_011535617.1:c.1582+41592C>A | XP_011533919.1:n.1582+41592C>A | |
| XM_011535618.1:c.461C>A | XP_011533920.1:p.Thr154Asn | |
| NM_001350414.1:c.2090C>A | NP_001337343.1:p.Thr697Asn | |
| NM_001350415.1:c.2186C>A | NP_001337344.1:p.Thr729Asn | |
| NM_001350416.1:c.2135C>A | NP_001337345.1:p.Thr712Asn | |
| NM_001350417.1:c.1813+41592C>A | NP_001337346.1:n.1813+41592C>A | |
| NM_001350418.1:c.2108C>A | NP_001337347.1:p.Thr703Asn | |
| NM_001350419.1:c.1585+41592C>A | NP_001337348.1:n.1585+41592C>A | |
| NM_001350420.1:c.2243C>A | NP_001337349.1:p.Thr748Asn | |
| NM_001350421.1:c.1988C>A | NP_001337350.1:p.Thr663Asn | |
| NM_001350422.1:c.1810+41592C>A | NP_001337351.1:n.1810+41592C>A | |
| NM_001350423.1:c.1877C>A | NP_001337352.1:p.Thr626Asn | |
| NM_001350424.1:c.1672+41592C>A | NP_001337353.1:n.1672+41592C>A | |
| NM_001350425.1:c.2087C>A | NP_001337354.1:p.Thr696Asn | |
| NM_001350426.1:c.1660+41592C>A | NP_001337355.1:n.1660+41592C>A | |
| NM_001350427.1:c.1738+41592C>A | NP_001337356.1:n.1738+41592C>A | |
| NM_001350428.1:c.1744+41592C>A | NP_001337357.1:n.1744+41592C>A | |
| NM_001350429.1:c.1907C>A | NP_001337358.1:p.Thr636Asn | |
| NM_001350430.1:c.1741+41592C>A | NP_001337359.1:n.1741+41592C>A | |
| NM_001350431.1:c.2225C>A | NP_001337360.1:p.Thr742Asn | |
| NM_001350432.1:c.1648+41592C>A | NP_001337361.1:n.1648+41592C>A | |
| NM_001350433.1:c.2216C>A | NP_001337362.1:p.Thr739Asn | |
| NM_001350434.1:c.1888+41592C>A | NP_001337363.1:n.1888+41592C>A | |
| NM_001350435.1:c.2078C>A | NP_001337364.1:p.Thr693Asn | |
| NM_001350436.1:c.2321C>A | NP_001337365.1:p.Thr774Asn | |
| NM_001350437.1:c.2072C>A | NP_001337366.1:p.Thr691Asn | |
| NM_001350438.1:c.1993+41592C>A | NP_001337367.1:n.1993+41592C>A | |
| NM_001350439.1:c.2060C>A | NP_001337368.1:p.Thr687Asn | |
| NM_001350440.1:c.1657+41592C>A | NP_001337369.1:n.1657+41592C>A | |
| NM_001350441.1:c.2057C>A | NP_001337370.1:p.Thr686Asn | |
| NM_001350442.1:c.1996+41592C>A | NP_001337371.1:n.1996+41592C>A | |
| NM_001350443.1:c.2030C>A | NP_001337372.1:p.Thr677Asn | |
| NM_001350444.1:c.1904C>A | NP_001337373.1:p.Thr635Asn | |
| NM_001350445.1:c.1894+41592C>A | NP_001337374.1:n.1894+41592C>A | |
| NM_001350446.1:c.2315C>A | NP_001337375.1:p.Thr772Asn | |
| NM_001350447.1:c.1976C>A | NP_001337376.1:p.Thr659Asn | |
| NM_001350448.1:c.2132C>A | NP_001337377.1:p.Thr711Asn | |
| NM_001350449.1:c.1720+41592C>A | NP_001337378.1:n.1720+41592C>A | |
| NM_001350450.1:c.1669+41592C>A | NP_001337379.1:n.1669+41592C>A | |
| NM_001350454.1:c.2039C>A | NP_001337383.1:p.Thr680Asn | |
| NM_001350455.1:c.1588+41592C>A | NP_001337384.1:n.1588+41592C>A | |
| NM_001350456.1:c.2312C>A | NP_001337385.1:p.Thr771Asn | |
| NM_001350457.1:c.2069C>A | NP_001337386.1:p.Thr690Asn | |
| NM_001350458.1:c.2138C>A | NP_001337387.1:p.Thr713Asn | |
| NM_001350459.1:c.1991C>A | NP_001337388.1:p.Thr664Asn | |
| NM_001350460.1:c.2009C>A | NP_001337389.1:p.Thr670Asn | |
| NM_001350461.1:c.1859C>A | NP_001337390.1:p.Thr620Asn | |
| NM_001350462.1:c.2174C>A | NP_001337391.1:p.Thr725Asn | |
| NM_001350463.1:c.1814C>A | NP_001337392.1:p.Thr605Asn | |
| NM_001350464.1:c.1817C>A | NP_001337393.1:p.Thr606Asn | |
| NM_001350465.1:c.1498+41592C>A | NP_001337394.1:n.1498+41592C>A | |
| NM_001350466.1:c.1820C>A | NP_001337395.1:p.Thr607Asn | |
| NM_001350467.1:c.1736C>A | NP_001337396.1:p.Thr579Asn | |
| NM_001350468.1:c.1661C>A | NP_001337397.1:p.Thr554Asn | |
| NM_001350469.1:c.1889C>A | NP_001337398.1:p.Thr630Asn | |
| NM_001350470.1:c.1774+41592C>A | NP_001337399.1:n.1774+41592C>A | |
| NM_001350471.1:c.1970C>A | NP_001337400.1:p.Thr657Asn | |
| NM_001350472.1:c.1693+41592C>A | NP_001337401.1:n.1693+41592C>A | |
| NM_001350473.1:c.1696+41592C>A | NP_001337402.1:n.1696+41592C>A | |
| NM_001350474.1:c.1862C>A | NP_001337403.1:p.Thr621Asn | |
| XM_005248688.4:c.3638C>A | XP_005248745.1:p.Thr1213Asn | |
| XM_011535604.3:c.3707C>A | XP_011533906.2:p.Thr1236Asn | |
| XM_017010516.2:c.3956C>A | XP_016866005.1:p.Thr1319Asn | |
| XM_017010517.2:c.3863C>A | XP_016866006.1:p.Thr1288Asn | |
| XM_017010518.2:c.3860C>A | XP_016866007.1:p.Thr1287Asn | |
| XM_017010519.2:c.3803C>A | XP_016866008.1:p.Thr1268Asn | |
| XM_017010520.2:c.3791C>A | XP_016866009.1:p.Thr1264Asn | |
| XM_017010521.2:c.3773C>A | XP_016866010.1:p.Thr1258Asn | |
| XM_017010522.2:c.3710C>A | XP_016866011.1:p.Thr1237Asn | |
| XM_017010523.2:c.3683C>A | XP_016866012.1:p.Thr1228Asn | |
| XM_017010524.2:c.3665C>A | XP_016866013.1:p.Thr1222Asn | |
| XM_017010525.2:c.3650C>A | XP_016866014.1:p.Thr1217Asn | |
| XM_017010526.2:c.3638C>A | XP_016866015.1:p.Thr1213Asn | |
| XM_017010527.2:c.3635C>A | XP_016866016.1:p.Thr1212Asn | |
| XM_017010537.2:c.2213C>A | XP_016866026.1:p.Thr738Asn | |
| XM_017010544.2:c.2057C>A | XP_016866033.1:p.Thr686Asn | |
| XM_017010546.2:c.2033C>A | XP_016866035.1:p.Thr678Asn | |
| XM_017010556.2:c.287C>A | XP_016866045.1:p.Thr96Asn | |
| XM_017010557.2:c.119C>A | XP_016866046.1:p.Thr40Asn | |
| XM_017010558.2:c.119C>A | XP_016866047.1:p.Thr40Asn | |
| XM_024446369.1:c.4043C>A | XP_024302137.1:p.Thr1348Asn | |
| XM_024446370.1:c.3680C>A | XP_024302138.1:p.Thr1227Asn | |
| XM_024446371.1:c.3641C>A | XP_024302139.1:p.Thr1214Asn | |
| XM_024446372.1:c.2210C>A | XP_024302140.1:p.Thr737Asn | |
| NM_001168407.2:c.2129C>A | NP_001161879.1:p.Thr710Asn | |
| NM_001168408.2:c.1741+41592C>A | NP_001161880.1:n.1741+41592C>A | |
| NM_001168409.2:c.1570+41592C>A | NP_001161881.1:n.1570+41592C>A | |
| NM_001168410.2:c.1768+41592C>A | NP_001161882.1:n.1768+41592C>A | |
| NM_001350414.2:c.2090C>A | NP_001337343.1:p.Thr697Asn | |
| NM_001350415.2:c.2186C>A | NP_001337344.1:p.Thr729Asn | |
| NM_001350416.2:c.2135C>A | NP_001337345.1:p.Thr712Asn | |
| NM_001350417.2:c.1813+41592C>A | NP_001337346.1:n.1813+41592C>A | |
| NM_001350418.2:c.2108C>A | NP_001337347.1:p.Thr703Asn | |
| NM_001350419.2:c.1585+41592C>A | NP_001337348.1:n.1585+41592C>A | |
| NM_001350420.2:c.2243C>A | NP_001337349.1:p.Thr748Asn | |
| NM_001350421.2:c.1988C>A | NP_001337350.1:p.Thr663Asn | |
| NM_001350422.2:c.1810+41592C>A | NP_001337351.1:n.1810+41592C>A | |
| NM_001350423.2:c.1877C>A | NP_001337352.1:p.Thr626Asn | |
| NM_001350424.2:c.1672+41592C>A | NP_001337353.1:n.1672+41592C>A | |
| NM_001350425.2:c.2087C>A | NP_001337354.1:p.Thr696Asn | |
| NM_001350426.2:c.1660+41592C>A | NP_001337355.1:n.1660+41592C>A | |
| NM_001350427.2:c.1738+41592C>A | NP_001337356.1:n.1738+41592C>A | |
| NM_001350428.2:c.1744+41592C>A | NP_001337357.1:n.1744+41592C>A | |
| NM_001350429.2:c.1907C>A | NP_001337358.1:p.Thr636Asn | |
| NM_001350430.2:c.1741+41592C>A | NP_001337359.1:n.1741+41592C>A | |
| NM_001350431.2:c.2225C>A | NP_001337360.1:p.Thr742Asn | |
| NM_001350432.2:c.1648+41592C>A | NP_001337361.1:n.1648+41592C>A | |
| NM_001350433.2:c.2216C>A | NP_001337362.1:p.Thr739Asn | |
| NM_001350434.2:c.1888+41592C>A | NP_001337363.1:n.1888+41592C>A | |
| NM_001350435.2:c.2078C>A | NP_001337364.1:p.Thr693Asn | |
| NM_001350436.2:c.2321C>A | NP_001337365.1:p.Thr774Asn | |
| NM_001350437.2:c.2072C>A | NP_001337366.1:p.Thr691Asn | |
| NM_001350438.2:c.1993+41592C>A | NP_001337367.1:n.1993+41592C>A | |
| NM_001350439.2:c.2060C>A | NP_001337368.1:p.Thr687Asn | |
| NM_001350440.2:c.1657+41592C>A | NP_001337369.1:n.1657+41592C>A | |
| NM_001350441.2:c.2057C>A | NP_001337370.1:p.Thr686Asn | |
| NM_001350442.2:c.1996+41592C>A | NP_001337371.1:n.1996+41592C>A | |
| NM_001350443.2:c.2030C>A | NP_001337372.1:p.Thr677Asn | |
| NM_001350444.2:c.1904C>A | NP_001337373.1:p.Thr635Asn | |
| NM_001350445.2:c.1894+41592C>A | NP_001337374.1:n.1894+41592C>A | |
| NM_001350446.2:c.2315C>A | NP_001337375.1:p.Thr772Asn | |
| NM_001350447.2:c.1976C>A | NP_001337376.1:p.Thr659Asn | |
| NM_001350448.2:c.2132C>A | NP_001337377.1:p.Thr711Asn | |
| NM_001350449.2:c.1720+41592C>A | NP_001337378.1:n.1720+41592C>A | |
| NM_001350450.2:c.1669+41592C>A | NP_001337379.1:n.1669+41592C>A | |
| NM_001350454.2:c.2039C>A | NP_001337383.1:p.Thr680Asn | |
| NM_001350455.2:c.1588+41592C>A | NP_001337384.1:n.1588+41592C>A | |
| NM_001350456.2:c.2312C>A | NP_001337385.1:p.Thr771Asn | |
| NM_001350457.2:c.2069C>A | NP_001337386.1:p.Thr690Asn | |
| NM_001350458.2:c.2138C>A | NP_001337387.1:p.Thr713Asn | |
| NM_001350459.2:c.1991C>A | NP_001337388.1:p.Thr664Asn | |
| NM_001350460.2:c.2009C>A | NP_001337389.1:p.Thr670Asn | |
| NM_001350461.2:c.1859C>A | NP_001337390.1:p.Thr620Asn | |
| NM_001350462.2:c.2174C>A | NP_001337391.1:p.Thr725Asn | |
| NM_001350463.2:c.1814C>A | NP_001337392.1:p.Thr605Asn | |
| NM_001350464.2:c.1817C>A | NP_001337393.1:p.Thr606Asn | |
| NM_001350465.2:c.1498+41592C>A | NP_001337394.1:n.1498+41592C>A | |
| NM_001350466.2:c.1820C>A | NP_001337395.1:p.Thr607Asn | |
| NM_001350467.2:c.1736C>A | NP_001337396.1:p.Thr579Asn | |
| NM_001350468.2:c.1661C>A | NP_001337397.1:p.Thr554Asn | |
| NM_001350469.2:c.1889C>A | NP_001337398.1:p.Thr630Asn | |
| NM_001350470.2:c.1774+41592C>A | NP_001337399.1:n.1774+41592C>A | |
| NM_001350471.2:c.1970C>A | NP_001337400.1:p.Thr657Asn | |
| NM_001350472.2:c.1693+41592C>A | NP_001337401.1:n.1693+41592C>A | |
| NM_001350473.2:c.1696+41592C>A | NP_001337402.1:n.1696+41592C>A | |
| NM_001350474.2:c.1862C>A | NP_001337403.1:p.Thr621Asn | |
| NM_014989.7:c.4169C>A MANE Select | NP_055804.2:p.Thr1390Asn |