Canonical Allele Identifier: CA2215691031
Community Standard Title: NM_001042432.2(CLN3):c.1268C= (p.Ser423=)
Gene: CLN3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.28477565G= , CM000678.2:g.28477565G= GRCh38
NC_000016.9:g.28488886G= , CM000678.1:g.28488886G= GRCh37
NC_000016.8:g.28396387G= NCBI36
NG_008654.2:g.19738C= , LRG_689:g.19738C=

Transcript Alleles

HGVS Amino-acid Change
NM_001042432.2:c.1268C= MANE Select NP_001035897.1:p.Ser423=
ENST00000636147.2:c.1268C= MANE Select ENSP00000490105.1:p.Ser423=
NM_000086.2:c.1268C= , LRG_689t1:c.1268C= NP_000077.1:p.Ser423=
NM_001042432.1:c.1268C= , LRG_689t2:c.1268C= NP_001035897.1:p.Ser423=
NM_001286104.1:c.1196C= NP_001273033.1:p.Ser399=
NM_001286104.2:c.1196C= NP_001273033.1:p.Ser399=
NM_001286105.1:c.968C= NP_001273034.1:p.Ser323=
NM_001286105.2:c.968C= NP_001273034.1:p.Ser323=
NM_001286109.1:c.1034C= NP_001273038.1:p.Ser345=
NM_001286109.2:c.1034C= NP_001273038.1:p.Ser345=
NM_001286110.1:c.1106C= NP_001273039.1:p.Ser369=
NM_001286110.2:c.1106C= NP_001273039.1:p.Ser369=
ENST00000333496.13:c.1196C= ENSP00000329171.9:p.Ser399=
ENST00000333496.14:c.1196C= ENSP00000329171.9:p.Ser399=
ENST00000355477.10:c.1124C= ENSP00000347660.7:p.Ser375=
ENST00000355477.9:c.*505C= ENSP00000347660.6:n.*505C=
ENST00000357806.11:c.971C= ENSP00000350457.7:p.Ser324=
ENST00000357857.13:c.1106C= ENSP00000350523.9:p.Ser369=
ENST00000357857.14:c.1106C= ENSP00000350523.9:p.Ser369=
ENST00000359984.11:c.962C= ENSP00000353073.8:p.Ser321=
ENST00000359984.12:c.1268C= ENSP00000353073.9:p.Ser423=
ENST00000360019.6:c.1268C= ENSP00000353116.2:p.Ser423=
ENST00000360019.8:c.1196C= ENSP00000353116.3:p.Ser399=
ENST00000395653.8:c.968C= ENSP00000379014.4:p.Ser323=
ENST00000395653.9:c.809C= ENSP00000379014.5:p.Ser270=
ENST00000561689.5:n.1237C=
ENST00000561689.6:n.1681C=
ENST00000563874.5:n.2796C=
ENST00000564091.5:c.357C=
ENST00000564091.6:c.608C= ENSP00000454466.2:p.Ser203=
ENST00000565140.5:c.1176C= ENSP00000455342.1:n.1176C=
ENST00000565316.5:c.1217C= ENSP00000456117.1:p.Ser406=
ENST00000565316.6:c.1217C= ENSP00000456117.1:p.Ser406=
ENST00000565354.5:n.581C=
ENST00000566057.5:c.882C= ENSP00000456693.1:n.882C=
ENST00000567963.5:c.977C= ENSP00000455387.1:p.Ser326=
ENST00000567963.6:c.1106C= ENSP00000455387.2:p.Ser369=
ENST00000568076.5:n.1179C=
ENST00000568076.6:n.1697C=
ENST00000568224.4:c.1034C= ENSP00000454253.1:p.Ser345=
ENST00000568422.5:c.*505C= ENSP00000455549.1:n.*505C=
ENST00000568422.6:c.*505C= ENSP00000455549.2:n.*505C=
ENST00000568452.5:n.1396C=
ENST00000568452.6:n.1499C=
ENST00000569030.5:c.1060C= ENSP00000454680.1:n.1060C=
ENST00000569430.5:c.1268C= ENSP00000454229.1:p.Ser423=
ENST00000569430.7:c.1268C= ENSP00000454229.1:p.Ser423=
ENST00000628023.2:c.*564C= ENSP00000486178.1:n.*564C=
ENST00000628023.3:c.*564C= ENSP00000486178.1:n.*564C=
ENST00000631023.2:c.977C= ENSP00000486616.1:p.Ser326=
ENST00000635861.1:c.*920C= ENSP00000490034.1:n.*920C=
ENST00000635887.1:c.1268C= ENSP00000490709.1:p.Ser423=
ENST00000635958.1:n.1675C=
ENST00000636017.1:c.*792C= ENSP00000490538.1:n.*792C=
ENST00000636078.1:n.1390C=
ENST00000636172.1:c.*792C= ENSP00000490505.1:n.*792C=
ENST00000636228.1:c.962C= ENSP00000489627.1:p.Ser321=
ENST00000636351.1:n.1162C=
ENST00000636503.1:c.*298C= ENSP00000489824.1:n.*298C=
ENST00000636766.1:c.1268C= ENSP00000489841.1:p.Ser423=
ENST00000636839.1:n.1764C=
ENST00000636853.1:n.2281C=
ENST00000636866.1:c.*63C= ENSP00000490880.1:n.*63C=
ENST00000636907.1:n.1419C=
ENST00000636977.1:n.2760C=
ENST00000637050.1:n.1657C=
ENST00000637100.1:c.1006-3303C= ENSP00000490394.1:n.1006-3303C=
ENST00000637107.1:c.*792C= ENSP00000490248.1:n.*792C=
ENST00000637184.1:c.*298C= ENSP00000489952.1:n.*298C=
ENST00000637299.1:c.*1077C= ENSP00000489823.1:n.*1077C=
ENST00000637376.1:c.*298C= ENSP00000490758.1:n.*298C=
ENST00000637378.1:c.228+4540C= ENSP00000490831.1:n.228+4540C=
ENST00000637578.1:c.*792C= ENSP00000490206.1:n.*792C=
ENST00000637699.1:c.1179C= ENSP00000490049.1:n.1179C=
ENST00000637745.1:c.705C=
ENST00000637871.1:c.*966C= ENSP00000490670.1:n.*966C=
ENST00000638036.1:c.430C=