Canonical Allele Identifier: CA368231031
Community Standard Title: NM_003919.3(SGCE):c.895G>T (p.Gly299Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94600788C>A , CM000669.2:g.94600788C>A GRCh38
NC_000007.13:g.94230100C>A , CM000669.1:g.94230100C>A GRCh37
NC_000007.12:g.94068036C>A NCBI36
NG_008893.1:g.60422G>T
NG_008893.2:g.60422G>T
NG_008893.3:g.60785G>T

Transcript Alleles

HGVS Amino-acid Change
NM_003919.3:c.895G>T (SGCE) MANE Select NP_003910.1:p.Gly299Ter
ENST00000648936.2:c.895G>T (SGCE) MANE Select ENSP00000497130.1:p.Gly299Ter
NM_001099400.1:c.895G>T (SGCE) NP_001092870.1:p.Gly299Ter
NM_001099400.2:c.895G>T (SGCE) NP_001092870.1:p.Gly299Ter
NM_001099401.1:c.895G>T (SGCE) NP_001092871.1:p.Gly299Ter
NM_001099401.2:c.895G>T (SGCE) NP_001092871.1:p.Gly299Ter
NM_001301139.1:c.772G>T (SGCE) NP_001288068.1:p.Gly258Ter
NM_001301139.2:c.772G>T (SGCE) NP_001288068.1:p.Gly258Ter
NM_001346713.1:c.1003G>T (SGCE) NP_001333642.1:p.Gly335Ter
NM_001346713.2:c.1003G>T (SGCE) NP_001333642.1:p.Gly335Ter
NM_001346715.1:c.1003G>T (SGCE) NP_001333644.1:p.Gly335Ter
NM_001346715.2:c.1003G>T (SGCE) NP_001333644.1:p.Gly335Ter
NM_001346717.1:c.895G>T (SGCE) NP_001333646.1:p.Gly299Ter
NM_001346717.2:c.895G>T (SGCE) NP_001333646.1:p.Gly299Ter
NM_001346719.1:c.808G>T (SGCE) NP_001333648.1:p.Gly270Ter
NM_001346719.2:c.808G>T (SGCE) NP_001333648.1:p.Gly270Ter
NM_001346720.1:c.622G>T (SGCE) NP_001333649.1:p.Gly208Ter
NM_001346720.2:c.622G>T (SGCE) NP_001333649.1:p.Gly208Ter
NM_001362807.1:c.808G>T (SGCE) NP_001349736.1:p.Gly270Ter
NM_001362807.2:c.808G>T (SGCE) NP_001349736.1:p.Gly270Ter
NM_001362808.1:c.622G>T (SGCE) NP_001349737.1:p.Gly208Ter
NM_001362808.2:c.622G>T (SGCE) NP_001349737.1:p.Gly208Ter
NM_001362809.1:c.772G>T (SGCE) NP_001349738.1:p.Gly258Ter
NM_001362809.2:c.772G>T (SGCE) NP_001349738.1:p.Gly258Ter
NM_003919.2:c.895G>T (SGCE) NP_003910.1:p.Gly299Ter
ENST00000265735.11:c.895G>T (SGCE) ENSP00000265735.6:p.Gly299Ter
ENST00000415788.2:c.1003G>T (SGCE) ENSP00000405313.2:p.Gly335Ter
ENST00000415788.3:c.1003G>T (SGCE) ENSP00000405313.2:p.Gly335Ter
ENST00000428696.6:c.895G>T (SGCE) ENSP00000397536.2:p.Gly299Ter
ENST00000428696.7:c.874G>T (SGCE) ENSP00000397536.3:p.Gly292Ter
ENST00000437425.6:c.772G>T (SGCE) ENSP00000394061.2:p.Gly258Ter
ENST00000437425.7:c.772G>T (SGCE) ENSP00000394061.2:p.Gly258Ter
ENST00000445866.6:c.895G>T (SGCE) ENSP00000398930.2:p.Gly299Ter
ENST00000445866.7:c.895G>T (SGCE) ENSP00000398930.2:p.Gly299Ter
ENST00000447873.5:c.895G>T (SGCE) ENSP00000388734.1:p.Gly299Ter
ENST00000447873.6:c.895G>T (SGCE) ENSP00000388734.1:p.Gly299Ter
ENST00000462731.1:n.188G>T (SGCE)
ENST00000642169.1:c.*277G>T (SGCE) ENSP00000496346.1:n.*277G>T
ENST00000642291.1:c.756G>T (SGCE)
ENST00000642353.1:n.866G>T (SGCE)
ENST00000642394.1:c.772G>T (SGCE) ENSP00000493751.1:p.Gly258Ter
ENST00000642441.1:c.976G>T (SGCE) ENSP00000495994.1:p.Gly326Ter
ENST00000642497.1:n.1668G>T (SGCE)
ENST00000642564.1:n.995G>T (SGCE)
ENST00000642638.1:c.*933G>T (SGCE) ENSP00000495555.1:n.*933G>T
ENST00000642707.1:c.1003G>T (SGCE) ENSP00000495270.1:p.Gly335Ter
ENST00000642754.1:n.5767G>T (SGCE)
ENST00000642759.1:n.984G>T (SGCE)
ENST00000642802.1:n.717G>T (SGCE)
ENST00000642904.1:n.983G>T (SGCE)
ENST00000642933.1:c.895G>T (SGCE) ENSP00000496237.1:p.Gly299Ter
ENST00000643020.1:c.821G>T (SGCE)
ENST00000643041.1:c.895G>T (SGCE) ENSP00000495311.1:p.Gly299Ter
ENST00000643128.1:c.895G>T (SGCE) ENSP00000496678.1:p.Gly299Ter
ENST00000643160.1:c.126G>T (SGCE)
ENST00000643193.1:c.895G>T (SGCE) ENSP00000496559.1:p.Gly299Ter
ENST00000643206.1:c.*476G>T (SGCE) ENSP00000496172.1:n.*476G>T
ENST00000643272.1:c.1003G>T (SGCE) ENSP00000494488.1:p.Gly335Ter
ENST00000643324.1:n.1786G>T (SGCE)
ENST00000643491.1:n.823G>T (SGCE)
ENST00000643568.1:c.576G>T (SGCE)
ENST00000643605.1:c.*882G>T (SGCE) ENSP00000496480.1:n.*882G>T
ENST00000643610.1:c.895G>T (SGCE) ENSP00000494350.1:p.Gly299Ter
ENST00000643714.1:n.963G>T (SGCE)
ENST00000643903.1:c.895G>T (SGCE) ENSP00000495165.1:p.Gly299Ter
ENST00000643991.1:c.804G>T (SGCE)
ENST00000644087.1:c.*972G>T (SGCE) ENSP00000495249.1:n.*972G>T
ENST00000644116.1:c.895G>T (SGCE) ENSP00000495276.1:p.Gly299Ter
ENST00000644122.1:c.976G>T (SGCE) ENSP00000495236.1:p.Gly326Ter
ENST00000644201.1:c.678G>T (SGCE) ENSP00000495044.1:n.678G>T
ENST00000644268.1:n.1515G>T (SGCE)
ENST00000644373.1:n.1931G>T (SGCE)
ENST00000644375.1:c.961G>T (SGCE) ENSP00000494315.1:p.Gly321Ter
ENST00000644533.1:n.1650G>T (SGCE)
ENST00000644551.1:c.976G>T (SGCE) ENSP00000493981.1:p.Gly326Ter
ENST00000644609.1:c.895G>T (SGCE) ENSP00000496045.1:p.Gly299Ter
ENST00000644639.1:c.*556G>T (SGCE) ENSP00000496391.1:n.*556G>T
ENST00000644658.1:c.390-1065G>T (SGCE)
ENST00000644674.1:n.796G>T (SGCE)
ENST00000644681.1:c.622G>T (SGCE) ENSP00000496455.1:p.Gly208Ter
ENST00000644682.1:c.959G>T (SGCE)
ENST00000644816.1:c.895G>T (SGCE) ENSP00000494898.1:p.Gly299Ter
ENST00000645101.1:c.1084G>T (SGCE) ENSP00000494975.1:p.Gly362Ter
ENST00000645109.1:c.1003G>T (SGCE) ENSP00000495931.1:p.Gly335Ter
ENST00000645262.1:c.772G>T (SGCE) ENSP00000494164.1:p.Gly258Ter
ENST00000645445.1:c.869G>T (SGCE)
ENST00000645535.1:c.622G>T (SGCE) ENSP00000493984.1:p.Gly208Ter
ENST00000645579.1:n.1815G>T (SGCE)
ENST00000645624.1:n.458G>T (SGCE)
ENST00000645725.1:c.976G>T (SGCE) ENSP00000495480.1:p.Gly326Ter
ENST00000646098.1:c.871G>T (SGCE) ENSP00000495591.1:p.Gly291Ter
ENST00000646119.1:c.869G>T (SGCE)
ENST00000646137.1:c.895G>T (SGCE) ENSP00000495199.1:p.Gly299Ter
ENST00000646265.1:c.984G>T (SGCE)
ENST00000646301.1:c.868G>T (SGCE)
ENST00000646434.1:c.1144G>T (SGCE)
ENST00000646466.1:c.*825G>T (SGCE) ENSP00000493511.1:n.*825G>T
ENST00000646489.1:c.1003G>T (SGCE) ENSP00000496268.1:p.Gly335Ter
ENST00000646559.1:c.*825G>T (SGCE) ENSP00000495838.1:n.*825G>T
ENST00000646600.1:c.*825G>T (SGCE) ENSP00000494041.1:n.*825G>T
ENST00000646682.1:c.*503G>T (SGCE) ENSP00000496461.1:n.*503G>T
ENST00000646879.1:c.895G>T (SGCE) ENSP00000495209.1:p.Gly299Ter
ENST00000646910.1:n.928G>T (SGCE)
ENST00000646943.1:c.895G>T (SGCE) ENSP00000494666.1:p.Gly299Ter
ENST00000647018.1:c.1003G>T (SGCE) ENSP00000493722.1:p.Gly335Ter
ENST00000647031.1:n.3509G>T (SGCE)
ENST00000647048.1:c.719G>T (SGCE)
ENST00000647096.1:c.1003G>T (SGCE) ENSP00000494192.1:p.Gly335Ter
ENST00000647110.1:c.901G>T (SGCE) ENSP00000494738.1:p.Gly301Ter
ENST00000647334.1:c.1001G>T (SGCE)
ENST00000647351.1:c.976G>T (SGCE) ENSP00000494556.1:p.Gly326Ter
ENST00000647379.1:n.108G>T (SGCE)
ENST00000647533.1:n.1594G>T (SGCE)
XM_005250675.3:c.1003G>T (SGCE) XP_005250732.1:p.Gly335Ter
XM_005250677.3:c.1003G>T (SGCE) XP_005250734.1:p.Gly335Ter
XM_011516495.1:c.2128-30528C>A (CASD1) XP_011514797.1:n.2128-30528C>A
XM_011516495.2:c.2128-30528C>A (CASD1) XP_011514797.1:n.2128-30528C>A
XM_011516663.1:c.1003G>T (SGCE) XP_011514965.1:p.Gly335Ter
XM_011516663.2:c.1003G>T (SGCE) XP_011514965.1:p.Gly335Ter
XM_011516664.1:c.1003G>T (SGCE) XP_011514966.1:p.Gly335Ter
XM_011516664.2:c.1003G>T (SGCE) XP_011514966.1:p.Gly335Ter
XM_011516665.1:c.895G>T (SGCE) XP_011514967.1:p.Gly299Ter
XM_011516665.3:c.895G>T (SGCE) XP_011514967.1:p.Gly299Ter
XM_011516666.1:c.895G>T (SGCE) XP_011514968.1:p.Gly299Ter
XM_011516666.3:c.895G>T (SGCE) XP_011514968.1:p.Gly299Ter
XM_011516667.1:c.808G>T (SGCE) XP_011514969.1:p.Gly270Ter
XM_011516667.2:c.808G>T (SGCE) XP_011514969.1:p.Gly270Ter
XM_011516668.1:c.772G>T (SGCE) XP_011514970.1:p.Gly258Ter
XM_011516669.1:c.622G>T (SGCE) XP_011514971.1:p.Gly208Ter
XM_011516669.3:c.622G>T (SGCE) XP_011514971.1:p.Gly208Ter
XM_017012763.1:c.808G>T (SGCE) XP_016868252.1:p.Gly270Ter
XM_017012767.1:c.622G>T (SGCE) XP_016868256.1:p.Gly208Ter
XM_024446985.1:c.772G>T (SGCE) XP_024302753.1:p.Gly258Ter
XM_024446986.1:c.772G>T (SGCE) XP_024302754.1:p.Gly258Ter