Canonical Allele Identifier: CA2215697799
Gene: CLN3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.28482129G= , CM000678.2:g.28482129G= GRCh38
NC_000016.9:g.28493450G= , CM000678.1:g.28493450G= GRCh37
NC_000016.8:g.28400951G= NCBI36
NG_008654.2:g.15174C= , LRG_689:g.15174C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000333496.14:c.960C= ENSP00000329171.9:p.Phe320=
ENST00000355477.10:c.888C= ENSP00000347660.7:p.Phe296=
ENST00000357857.14:c.870C= ENSP00000350523.9:p.Phe290=
ENST00000359984.12:c.1032C= ENSP00000353073.9:p.Phe344=
ENST00000360019.8:c.960C= ENSP00000353116.3:p.Phe320=
ENST00000395653.9:c.573C= ENSP00000379014.5:p.Phe191=
ENST00000561689.6:n.1445C=
ENST00000564091.6:c.372C= ENSP00000454466.2:p.Phe124=
ENST00000565316.6:c.981C= ENSP00000456117.1:p.Phe327=
ENST00000566824.6:n.1092C=
ENST00000567963.6:c.870C= ENSP00000455387.2:p.Phe290=
ENST00000568076.6:n.1461C=
ENST00000568422.6:c.*269C= ENSP00000455549.2:n.*269C=
ENST00000568452.6:n.1263C=
ENST00000568497.6:c.63C= ENSP00000456414.2:p.Phe21=
ENST00000569430.7:c.1032C= ENSP00000454229.1:p.Phe344=
ENST00000628023.3:c.*328C= ENSP00000486178.1:n.*328C=
ENST00000635861.1:c.*684C= ENSP00000490034.1:n.*684C=
ENST00000635887.1:c.1032C= ENSP00000490709.1:p.Phe344=
ENST00000635958.1:n.1317C=
ENST00000635973.1:c.783C= ENSP00000490363.1:p.Phe261=
ENST00000636017.1:c.*556C= ENSP00000490538.1:n.*556C=
ENST00000636078.1:n.1154C=
ENST00000636147.2:c.1032C= MANE Select ENSP00000490105.1:p.Phe344=
ENST00000636172.1:c.*556C= ENSP00000490505.1:n.*556C=
ENST00000636228.1:c.726C= ENSP00000489627.1:p.Phe242=
ENST00000636351.1:n.926C=
ENST00000636503.1:c.1032C= ENSP00000489824.1:p.Phe344=
ENST00000636685.1:n.713C=
ENST00000636766.1:c.1032C= ENSP00000489841.1:p.Phe344=
ENST00000636839.1:n.1406C=
ENST00000636853.1:n.1947C=
ENST00000636866.1:c.1032C= ENSP00000490880.1:p.Phe344=
ENST00000636907.1:n.1183C=
ENST00000636977.1:n.2402C=
ENST00000637050.1:n.1421C=
ENST00000637100.1:c.981C= ENSP00000490394.1:p.Phe327=
ENST00000637107.1:c.*556C= ENSP00000490248.1:n.*556C=
ENST00000637184.1:c.1032C= ENSP00000489952.1:p.Phe344=
ENST00000637299.1:c.*841C= ENSP00000489823.1:n.*841C=
ENST00000637376.1:c.1032C= ENSP00000490758.1:p.Phe344=
ENST00000637378.1:c.204C= ENSP00000490831.1:p.Phe68=
ENST00000637578.1:c.*556C= ENSP00000490206.1:n.*556C=
ENST00000637699.1:c.943C= ENSP00000490049.1:n.943C=
ENST00000637745.1:c.371C=
ENST00000637871.1:c.*730C= ENSP00000490670.1:n.*730C=
ENST00000638036.1:c.194C=
ENST00000333496.13:c.960C= ENSP00000329171.9:p.Phe320=
ENST00000355477.9:c.*269C= ENSP00000347660.6:n.*269C=
ENST00000357806.11:c.735C= ENSP00000350457.7:p.Phe245=
ENST00000357857.13:c.870C= ENSP00000350523.9:p.Phe290=
ENST00000359984.11:c.726C= ENSP00000353073.8:p.Phe242=
ENST00000360019.6:c.1032C= ENSP00000353116.2:p.Phe344=
ENST00000395653.8:c.732C= ENSP00000379014.4:p.Phe244=
ENST00000561689.5:n.1001C=
ENST00000563874.5:n.2560C=
ENST00000564091.5:c.121C=
ENST00000565140.5:c.815C= ENSP00000455342.1:n.815C=
ENST00000565316.5:c.981C= ENSP00000456117.1:p.Phe327=
ENST00000565354.5:n.345C=
ENST00000566057.5:c.646C= ENSP00000456693.1:n.646C=
ENST00000567963.5:c.906+348C= ENSP00000455387.1:n.906+348C=
ENST00000568076.5:n.943C=
ENST00000568224.4:c.798C= ENSP00000454253.1:p.Phe266=
ENST00000568422.5:c.*269C= ENSP00000455549.1:n.*269C=
ENST00000568452.5:n.1160C=
ENST00000569030.5:c.702C= ENSP00000454680.1:p.Phe234=
ENST00000569430.5:c.1032C= ENSP00000454229.1:p.Phe344=
ENST00000628023.2:c.*328C= ENSP00000486178.1:n.*328C=
ENST00000631023.2:c.906+348C= ENSP00000486616.1:n.906+348C=
NM_000086.2:c.1032C= , LRG_689t1:c.1032C= NP_000077.1:p.Phe344=
NM_001042432.1:c.1032C= , LRG_689t2:c.1032C= NP_001035897.1:p.Phe344=
NM_001286104.1:c.960C= NP_001273033.1:p.Phe320=
NM_001286105.1:c.732C= NP_001273034.1:p.Phe244=
NM_001286109.1:c.798C= NP_001273038.1:p.Phe266=
NM_001286110.1:c.870C= NP_001273039.1:p.Phe290=
NM_001042432.2:c.1032C= MANE Select NP_001035897.1:p.Phe344=
NM_001286104.2:c.960C= NP_001273033.1:p.Phe320=
NM_001286105.2:c.732C= NP_001273034.1:p.Phe244=
NM_001286109.2:c.798C= NP_001273038.1:p.Phe266=
NM_001286110.2:c.870C= NP_001273039.1:p.Phe290=