Canonical Allele Identifier: CA2215697911
Gene: CLN3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.28482170A= , CM000678.2:g.28482170A= GRCh38
NC_000016.9:g.28493491A= , CM000678.1:g.28493491A= GRCh37
NC_000016.8:g.28400992A= NCBI36
NG_008654.2:g.15133T= , LRG_689:g.15133T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000333496.14:c.919T= ENSP00000329171.9:p.Phe307=
ENST00000355477.10:c.847T= ENSP00000347660.7:p.Phe283=
ENST00000357857.14:c.829T= ENSP00000350523.9:p.Phe277=
ENST00000359984.12:c.991T= ENSP00000353073.9:p.Phe331=
ENST00000360019.8:c.919T= ENSP00000353116.3:p.Phe307=
ENST00000395653.9:c.532T= ENSP00000379014.5:p.Phe178=
ENST00000561689.6:n.1404T=
ENST00000564091.6:c.331T= ENSP00000454466.2:p.Phe111=
ENST00000565316.6:c.940T= ENSP00000456117.1:p.Phe314=
ENST00000566824.6:n.1051T=
ENST00000567963.6:c.829T= ENSP00000455387.2:p.Phe277=
ENST00000568076.6:n.1420T=
ENST00000568422.6:c.*228T= ENSP00000455549.2:n.*228T=
ENST00000568452.6:n.1222T=
ENST00000568497.6:c.22T= ENSP00000456414.2:p.Phe8=
ENST00000569430.7:c.991T= ENSP00000454229.1:p.Phe331=
ENST00000628023.3:c.*287T= ENSP00000486178.1:n.*287T=
ENST00000635861.1:c.*643T= ENSP00000490034.1:n.*643T=
ENST00000635887.1:c.991T= ENSP00000490709.1:p.Phe331=
ENST00000635958.1:n.1276T=
ENST00000635973.1:c.742T= ENSP00000490363.1:p.Phe248=
ENST00000636017.1:c.*515T= ENSP00000490538.1:n.*515T=
ENST00000636078.1:n.1113T=
ENST00000636147.2:c.991T= MANE Select ENSP00000490105.1:p.Phe331=
ENST00000636172.1:c.*515T= ENSP00000490505.1:n.*515T=
ENST00000636228.1:c.685T= ENSP00000489627.1:p.Phe229=
ENST00000636351.1:n.885T=
ENST00000636503.1:c.991T= ENSP00000489824.1:p.Phe331=
ENST00000636685.1:n.672T=
ENST00000636766.1:c.991T= ENSP00000489841.1:p.Phe331=
ENST00000636839.1:n.1365T=
ENST00000636853.1:n.1906T=
ENST00000636866.1:c.991T= ENSP00000490880.1:p.Phe331=
ENST00000636907.1:n.1142T=
ENST00000636977.1:n.2361T=
ENST00000637050.1:n.1380T=
ENST00000637100.1:c.940T= ENSP00000490394.1:p.Phe314=
ENST00000637107.1:c.*515T= ENSP00000490248.1:n.*515T=
ENST00000637184.1:c.991T= ENSP00000489952.1:p.Phe331=
ENST00000637299.1:c.*800T= ENSP00000489823.1:n.*800T=
ENST00000637376.1:c.991T= ENSP00000490758.1:p.Phe331=
ENST00000637378.1:c.163T= ENSP00000490831.1:p.Phe55=
ENST00000637578.1:c.*515T= ENSP00000490206.1:n.*515T=
ENST00000637699.1:c.902T= ENSP00000490049.1:n.902T=
ENST00000637745.1:c.330T=
ENST00000637871.1:c.*689T= ENSP00000490670.1:n.*689T=
ENST00000638036.1:c.153T=
ENST00000333496.13:c.919T= ENSP00000329171.9:p.Phe307=
ENST00000355477.9:c.*228T= ENSP00000347660.6:n.*228T=
ENST00000357806.11:c.694T= ENSP00000350457.7:p.Phe232=
ENST00000357857.13:c.829T= ENSP00000350523.9:p.Phe277=
ENST00000359984.11:c.685T= ENSP00000353073.8:p.Phe229=
ENST00000360019.6:c.991T= ENSP00000353116.2:p.Phe331=
ENST00000395653.8:c.691T= ENSP00000379014.4:p.Phe231=
ENST00000561689.5:n.960T=
ENST00000563874.5:n.2519T=
ENST00000564091.5:c.80T=
ENST00000565140.5:c.774T= ENSP00000455342.1:n.774T=
ENST00000565316.5:c.940T= ENSP00000456117.1:p.Phe314=
ENST00000565354.5:n.304T=
ENST00000566057.5:c.605T= ENSP00000456693.1:n.605T=
ENST00000567963.5:c.906+307T= ENSP00000455387.1:n.906+307T=
ENST00000568076.5:n.902T=
ENST00000568224.4:c.757T= ENSP00000454253.1:p.Phe253=
ENST00000568422.5:c.*228T= ENSP00000455549.1:n.*228T=
ENST00000568452.5:n.1119T=
ENST00000568472.5:n.471T=
ENST00000568558.5:c.532T= ENSP00000455603.1:p.Phe178=
ENST00000569030.5:c.661T= ENSP00000454680.1:p.Phe221=
ENST00000569430.5:c.991T= ENSP00000454229.1:p.Phe331=
ENST00000628023.2:c.*287T= ENSP00000486178.1:n.*287T=
ENST00000631023.2:c.906+307T= ENSP00000486616.1:n.906+307T=
NM_000086.2:c.991T= , LRG_689t1:c.991T= NP_000077.1:p.Phe331=
NM_001042432.1:c.991T= , LRG_689t2:c.991T= NP_001035897.1:p.Phe331=
NM_001286104.1:c.919T= NP_001273033.1:p.Phe307=
NM_001286105.1:c.691T= NP_001273034.1:p.Phe231=
NM_001286109.1:c.757T= NP_001273038.1:p.Phe253=
NM_001286110.1:c.829T= NP_001273039.1:p.Phe277=
NM_001042432.2:c.991T= MANE Select NP_001035897.1:p.Phe331=
NM_001286104.2:c.919T= NP_001273033.1:p.Phe307=
NM_001286105.2:c.691T= NP_001273034.1:p.Phe231=
NM_001286109.2:c.757T= NP_001273038.1:p.Phe253=
NM_001286110.2:c.829T= NP_001273039.1:p.Phe277=