Canonical Allele Identifier: CA2215697889
Gene: CLN3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.28482161G= , CM000678.2:g.28482161G= GRCh38
NC_000016.9:g.28493482G= , CM000678.1:g.28493482G= GRCh37
NC_000016.8:g.28400983G= NCBI36
NG_008654.2:g.15142C= , LRG_689:g.15142C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000333496.14:c.928C= ENSP00000329171.9:p.Arg310=
ENST00000355477.10:c.856C= ENSP00000347660.7:p.Arg286=
ENST00000357857.14:c.838C= ENSP00000350523.9:p.Arg280=
ENST00000359984.12:c.1000C= ENSP00000353073.9:p.Arg334=
ENST00000360019.8:c.928C= ENSP00000353116.3:p.Arg310=
ENST00000395653.9:c.541C= ENSP00000379014.5:p.Arg181=
ENST00000561689.6:n.1413C=
ENST00000564091.6:c.340C= ENSP00000454466.2:p.Arg114=
ENST00000565316.6:c.949C= ENSP00000456117.1:p.Arg317=
ENST00000566824.6:n.1060C=
ENST00000567963.6:c.838C= ENSP00000455387.2:p.Arg280=
ENST00000568076.6:n.1429C=
ENST00000568422.6:c.*237C= ENSP00000455549.2:n.*237C=
ENST00000568452.6:n.1231C=
ENST00000568497.6:c.31C= ENSP00000456414.2:p.Arg11=
ENST00000569430.7:c.1000C= ENSP00000454229.1:p.Arg334=
ENST00000628023.3:c.*296C= ENSP00000486178.1:n.*296C=
ENST00000635861.1:c.*652C= ENSP00000490034.1:n.*652C=
ENST00000635887.1:c.1000C= ENSP00000490709.1:p.Arg334=
ENST00000635958.1:n.1285C=
ENST00000635973.1:c.751C= ENSP00000490363.1:p.Arg251=
ENST00000636017.1:c.*524C= ENSP00000490538.1:n.*524C=
ENST00000636078.1:n.1122C=
ENST00000636147.2:c.1000C= MANE Select ENSP00000490105.1:p.Arg334=
ENST00000636172.1:c.*524C= ENSP00000490505.1:n.*524C=
ENST00000636228.1:c.694C= ENSP00000489627.1:p.Arg232=
ENST00000636351.1:n.894C=
ENST00000636503.1:c.1000C= ENSP00000489824.1:p.Arg334=
ENST00000636685.1:n.681C=
ENST00000636766.1:c.1000C= ENSP00000489841.1:p.Arg334=
ENST00000636839.1:n.1374C=
ENST00000636853.1:n.1915C=
ENST00000636866.1:c.1000C= ENSP00000490880.1:p.Arg334=
ENST00000636907.1:n.1151C=
ENST00000636977.1:n.2370C=
ENST00000637050.1:n.1389C=
ENST00000637100.1:c.949C= ENSP00000490394.1:p.Arg317=
ENST00000637107.1:c.*524C= ENSP00000490248.1:n.*524C=
ENST00000637184.1:c.1000C= ENSP00000489952.1:p.Arg334=
ENST00000637299.1:c.*809C= ENSP00000489823.1:n.*809C=
ENST00000637376.1:c.1000C= ENSP00000490758.1:p.Arg334=
ENST00000637378.1:c.172C= ENSP00000490831.1:p.Arg58=
ENST00000637578.1:c.*524C= ENSP00000490206.1:n.*524C=
ENST00000637699.1:c.911C= ENSP00000490049.1:n.911C=
ENST00000637745.1:c.339C=
ENST00000637871.1:c.*698C= ENSP00000490670.1:n.*698C=
ENST00000638036.1:c.162C=
ENST00000333496.13:c.928C= ENSP00000329171.9:p.Arg310=
ENST00000355477.9:c.*237C= ENSP00000347660.6:n.*237C=
ENST00000357806.11:c.703C= ENSP00000350457.7:p.Arg235=
ENST00000357857.13:c.838C= ENSP00000350523.9:p.Arg280=
ENST00000359984.11:c.694C= ENSP00000353073.8:p.Arg232=
ENST00000360019.6:c.1000C= ENSP00000353116.2:p.Arg334=
ENST00000395653.8:c.700C= ENSP00000379014.4:p.Arg234=
ENST00000561689.5:n.969C=
ENST00000563874.5:n.2528C=
ENST00000564091.5:c.89C=
ENST00000565140.5:c.783C= ENSP00000455342.1:n.783C=
ENST00000565316.5:c.949C= ENSP00000456117.1:p.Arg317=
ENST00000565354.5:n.313C=
ENST00000566057.5:c.614C= ENSP00000456693.1:n.614C=
ENST00000567963.5:c.906+316C= ENSP00000455387.1:n.906+316C=
ENST00000568076.5:n.911C=
ENST00000568224.4:c.766C= ENSP00000454253.1:p.Arg256=
ENST00000568422.5:c.*237C= ENSP00000455549.1:n.*237C=
ENST00000568452.5:n.1128C=
ENST00000568558.5:c.541C= ENSP00000455603.1:p.Arg181=
ENST00000569030.5:c.670C= ENSP00000454680.1:p.Arg224=
ENST00000569430.5:c.1000C= ENSP00000454229.1:p.Arg334=
ENST00000628023.2:c.*296C= ENSP00000486178.1:n.*296C=
ENST00000631023.2:c.906+316C= ENSP00000486616.1:n.906+316C=
NM_000086.2:c.1000C= , LRG_689t1:c.1000C= NP_000077.1:p.Arg334=
NM_001042432.1:c.1000C= , LRG_689t2:c.1000C= NP_001035897.1:p.Arg334=
NM_001286104.1:c.928C= NP_001273033.1:p.Arg310=
NM_001286105.1:c.700C= NP_001273034.1:p.Arg234=
NM_001286109.1:c.766C= NP_001273038.1:p.Arg256=
NM_001286110.1:c.838C= NP_001273039.1:p.Arg280=
NM_001042432.2:c.1000C= MANE Select NP_001035897.1:p.Arg334=
NM_001286104.2:c.928C= NP_001273033.1:p.Arg310=
NM_001286105.2:c.700C= NP_001273034.1:p.Arg234=
NM_001286109.2:c.766C= NP_001273038.1:p.Arg256=
NM_001286110.2:c.838C= NP_001273039.1:p.Arg280=