Canonical Allele Identifier: CA368239448
Community Standard Title: NM_003919.3(SGCE):c.153C>G (p.Tyr51Ter)
Gene: SGCE HGNC NCBI
CASD1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94629798G>C , CM000669.2:g.94629798G>C GRCh38
NC_000007.13:g.94259110G>C , CM000669.1:g.94259110G>C GRCh37
NC_000007.12:g.94097046G>C NCBI36
NG_008893.1:g.31412C>G
NG_008893.2:g.31412C>G
NG_008893.3:g.31775C>G

Transcript Alleles

HGVS Amino-acid Change
NM_003919.3:c.153C>G (SGCE) MANE Select NP_003910.1:p.Tyr51Ter
ENST00000648936.2:c.153C>G (SGCE) MANE Select ENSP00000497130.1:p.Tyr51Ter
NM_001099400.1:c.153C>G (SGCE) NP_001092870.1:p.Tyr51Ter
NM_001099400.2:c.153C>G (SGCE) NP_001092870.1:p.Tyr51Ter
NM_001099401.1:c.153C>G (SGCE) NP_001092871.1:p.Tyr51Ter
NM_001099401.2:c.153C>G (SGCE) NP_001092871.1:p.Tyr51Ter
NM_001301139.1:c.110-1439C>G (SGCE) NP_001288068.1:n.110-1439C>G
NM_001301139.2:c.110-1439C>G (SGCE) NP_001288068.1:n.110-1439C>G
NM_001346713.1:c.261C>G (SGCE) NP_001333642.1:p.Tyr87Ter
NM_001346713.2:c.261C>G (SGCE) NP_001333642.1:p.Tyr87Ter
NM_001346715.1:c.261C>G (SGCE) NP_001333644.1:p.Tyr87Ter
NM_001346715.2:c.261C>G (SGCE) NP_001333644.1:p.Tyr87Ter
NM_001346717.1:c.153C>G (SGCE) NP_001333646.1:p.Tyr51Ter
NM_001346717.2:c.153C>G (SGCE) NP_001333646.1:p.Tyr51Ter
NM_001346719.1:c.66C>G (SGCE) NP_001333648.1:p.Tyr22Ter
NM_001346719.2:c.66C>G (SGCE) NP_001333648.1:p.Tyr22Ter
NM_001346720.1:c.-121C>G (SGCE) NP_001333649.1:n.-121C>G
NM_001346720.2:c.-121C>G (SGCE) NP_001333649.1:n.-121C>G
NM_001362807.1:c.66C>G (SGCE) NP_001349736.1:p.Tyr22Ter
NM_001362807.2:c.66C>G (SGCE) NP_001349736.1:p.Tyr22Ter
NM_001362808.1:c.-121C>G (SGCE) NP_001349737.1:n.-121C>G
NM_001362808.2:c.-121C>G (SGCE) NP_001349737.1:n.-121C>G
NM_001362809.1:c.110-1439C>G (SGCE) NP_001349738.1:n.110-1439C>G
NM_001362809.2:c.110-1439C>G (SGCE) NP_001349738.1:n.110-1439C>G
NM_003919.2:c.153C>G (SGCE) NP_003910.1:p.Tyr51Ter
ENST00000265735.11:c.153C>G (SGCE) ENSP00000265735.6:p.Tyr51Ter
ENST00000415788.2:c.261C>G (SGCE) ENSP00000405313.2:p.Tyr87Ter
ENST00000415788.3:c.261C>G (SGCE) ENSP00000405313.2:p.Tyr87Ter
ENST00000425444.1:c.*83C>G (SGCE) ENSP00000391892.1:n.*83C>G
ENST00000425444.2:c.*191C>G (SGCE) ENSP00000391892.1:n.*191C>G
ENST00000428696.6:c.153C>G (SGCE) ENSP00000397536.2:p.Tyr51Ter
ENST00000428696.7:c.153C>G (SGCE) ENSP00000397536.3:p.Tyr51Ter
ENST00000437425.6:c.110-1439C>G (SGCE) ENSP00000394061.2:n.110-1439C>G
ENST00000437425.7:c.110-1439C>G (SGCE) ENSP00000394061.2:n.110-1439C>G
ENST00000445866.6:c.153C>G (SGCE) ENSP00000398930.2:p.Tyr51Ter
ENST00000445866.7:c.153C>G (SGCE) ENSP00000398930.2:p.Tyr51Ter
ENST00000447873.5:c.153C>G (SGCE) ENSP00000388734.1:p.Tyr51Ter
ENST00000447873.6:c.153C>G (SGCE) ENSP00000388734.1:p.Tyr51Ter
ENST00000450385.5:c.*191C>G (SGCE) ENSP00000398344.1:n.*191C>G
ENST00000450385.6:c.133C>G (SGCE) ENSP00000398344.2:p.Pro45Ala
ENST00000642169.1:c.110-6401C>G (SGCE) ENSP00000496346.1:n.110-6401C>G
ENST00000642291.1:c.14C>G (SGCE)
ENST00000642353.1:n.124C>G (SGCE)
ENST00000642394.1:c.110-1439C>G (SGCE) ENSP00000493751.1:n.110-1439C>G
ENST00000642441.1:c.153C>G (SGCE) ENSP00000495994.1:p.Tyr51Ter
ENST00000642564.1:n.253C>G (SGCE)
ENST00000642638.1:c.*191C>G (SGCE) ENSP00000495555.1:n.*191C>G
ENST00000642707.1:c.261C>G (SGCE) ENSP00000495270.1:p.Tyr87Ter
ENST00000642754.1:n.221C>G (SGCE)
ENST00000642759.1:n.242C>G (SGCE)
ENST00000642904.1:n.241C>G (SGCE)
ENST00000642933.1:c.153C>G (SGCE) ENSP00000496237.1:p.Tyr51Ter
ENST00000643020.1:c.100C>G (SGCE)
ENST00000643041.1:c.153C>G (SGCE) ENSP00000495311.1:p.Tyr51Ter
ENST00000643128.1:c.153C>G (SGCE) ENSP00000496678.1:p.Tyr51Ter
ENST00000643193.1:c.153C>G (SGCE) ENSP00000496559.1:p.Tyr51Ter
ENST00000643206.1:c.110-6401C>G (SGCE) ENSP00000496172.1:n.110-6401C>G
ENST00000643272.1:c.261C>G (SGCE) ENSP00000494488.1:p.Tyr87Ter
ENST00000643358.1:n.98C>G (SGCE)
ENST00000643368.1:n.15C>G (SGCE)
ENST00000643605.1:c.*140C>G (SGCE) ENSP00000496480.1:n.*140C>G
ENST00000643610.1:c.153C>G (SGCE) ENSP00000494350.1:p.Tyr51Ter
ENST00000643714.1:n.221C>G (SGCE)
ENST00000643903.1:c.153C>G (SGCE) ENSP00000495165.1:p.Tyr51Ter
ENST00000644087.1:c.*83C>G (SGCE) ENSP00000495249.1:n.*83C>G
ENST00000644116.1:c.153C>G (SGCE) ENSP00000495276.1:p.Tyr51Ter
ENST00000644122.1:c.153C>G (SGCE) ENSP00000495236.1:p.Tyr51Ter
ENST00000644201.1:c.135C>G (SGCE) ENSP00000495044.1:p.Tyr45Ter
ENST00000644375.1:c.153C>G (SGCE) ENSP00000494315.1:p.Tyr51Ter
ENST00000644551.1:c.153C>G (SGCE) ENSP00000493981.1:p.Tyr51Ter
ENST00000644609.1:c.153C>G (SGCE) ENSP00000496045.1:p.Tyr51Ter
ENST00000644639.1:c.153C>G (SGCE) ENSP00000496391.1:p.Tyr51Ter
ENST00000644674.1:n.54C>G (SGCE)
ENST00000644681.1:c.-121C>G (SGCE) ENSP00000496455.1:n.-121C>G
ENST00000644682.1:c.106C>G (SGCE)
ENST00000644816.1:c.153C>G (SGCE) ENSP00000494898.1:p.Tyr51Ter
ENST00000644924.1:n.94C>G (SGCE)
ENST00000645101.1:c.261C>G (SGCE) ENSP00000494975.1:p.Tyr87Ter
ENST00000645109.1:c.261C>G (SGCE) ENSP00000495931.1:p.Tyr87Ter
ENST00000645262.1:c.110-1439C>G (SGCE) ENSP00000494164.1:n.110-1439C>G
ENST00000645390.1:n.207C>G (SGCE)
ENST00000645445.1:c.151C>G (SGCE)
ENST00000645535.1:c.-121C>G (SGCE) ENSP00000493984.1:n.-121C>G
ENST00000645579.1:n.221C>G (SGCE)
ENST00000645725.1:c.153C>G (SGCE) ENSP00000495480.1:p.Tyr51Ter
ENST00000645920.1:c.*40-1439C>G (SGCE) ENSP00000494490.1:n.*40-1439C>G
ENST00000646098.1:c.153C>G (SGCE) ENSP00000495591.1:p.Tyr51Ter
ENST00000646119.1:c.127C>G (SGCE)
ENST00000646137.1:c.153C>G (SGCE) ENSP00000495199.1:p.Tyr51Ter
ENST00000646265.1:c.242C>G (SGCE)
ENST00000646301.1:c.126C>G (SGCE)
ENST00000646434.1:c.321C>G (SGCE)
ENST00000646466.1:c.*83C>G (SGCE) ENSP00000493511.1:n.*83C>G
ENST00000646489.1:c.261C>G (SGCE) ENSP00000496268.1:p.Tyr87Ter
ENST00000646559.1:c.*83C>G (SGCE) ENSP00000495838.1:n.*83C>G
ENST00000646600.1:c.*83C>G (SGCE) ENSP00000494041.1:n.*83C>G
ENST00000646682.1:c.*40-1439C>G (SGCE) ENSP00000496461.1:n.*40-1439C>G
ENST00000646761.1:n.177-1439C>G (SGCE)
ENST00000646879.1:c.153C>G (SGCE) ENSP00000495209.1:p.Tyr51Ter
ENST00000646910.1:n.186C>G (SGCE)
ENST00000646943.1:c.153C>G (SGCE) ENSP00000494666.1:p.Tyr51Ter
ENST00000647018.1:c.261C>G (SGCE) ENSP00000493722.1:p.Tyr87Ter
ENST00000647048.1:c.57-1439C>G (SGCE)
ENST00000647096.1:c.261C>G (SGCE) ENSP00000494192.1:p.Tyr87Ter
ENST00000647110.1:c.48C>G (SGCE) ENSP00000494738.1:p.Tyr16Ter
ENST00000647334.1:c.259C>G (SGCE)
ENST00000647351.1:c.153C>G (SGCE) ENSP00000494556.1:p.Tyr51Ter
XM_005250675.3:c.261C>G (SGCE) XP_005250732.1:p.Tyr87Ter
XM_005250677.3:c.261C>G (SGCE) XP_005250734.1:p.Tyr87Ter
XM_011516495.1:c.2128-1518G>C (CASD1) XP_011514797.1:n.2128-1518G>C
XM_011516495.2:c.2128-1518G>C (CASD1) XP_011514797.1:n.2128-1518G>C
XM_011516663.1:c.261C>G (SGCE) XP_011514965.1:p.Tyr87Ter
XM_011516663.2:c.261C>G (SGCE) XP_011514965.1:p.Tyr87Ter
XM_011516664.1:c.261C>G (SGCE) XP_011514966.1:p.Tyr87Ter
XM_011516664.2:c.261C>G (SGCE) XP_011514966.1:p.Tyr87Ter
XM_011516665.1:c.153C>G (SGCE) XP_011514967.1:p.Tyr51Ter
XM_011516665.3:c.153C>G (SGCE) XP_011514967.1:p.Tyr51Ter
XM_011516666.1:c.153C>G (SGCE) XP_011514968.1:p.Tyr51Ter
XM_011516666.3:c.153C>G (SGCE) XP_011514968.1:p.Tyr51Ter
XM_011516667.1:c.66C>G (SGCE) XP_011514969.1:p.Tyr22Ter
XM_011516667.2:c.66C>G (SGCE) XP_011514969.1:p.Tyr22Ter
XM_011516668.1:c.110-1439C>G (SGCE) XP_011514970.1:n.110-1439C>G
XM_011516669.1:c.-121C>G (SGCE) XP_011514971.1:n.-121C>G
XM_011516669.3:c.-121C>G (SGCE) XP_011514971.1:n.-121C>G
XM_017012763.1:c.66C>G (SGCE) XP_016868252.1:p.Tyr22Ter
XM_017012767.1:c.-121C>G (SGCE) XP_016868256.1:n.-121C>G
XM_024446985.1:c.110-1439C>G (SGCE) XP_024302753.1:n.110-1439C>G
XM_024446986.1:c.110-1439C>G (SGCE) XP_024302754.1:n.110-1439C>G
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