Canonical Allele Identifier: CA2215697899

Gene: CLN3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28482163G= , CM000678.2:g.28482163G=	GRCh38
NC_000016.9:g.28493484G= , CM000678.1:g.28493484G=	GRCh37
NC_000016.8:g.28400985G=	NCBI36
NG_008654.2:g.15140C= , LRG_689:g.15140C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333496.14:c.926C=	ENSP00000329171.9:p.Ser309=
ENST00000355477.10:c.854C=	ENSP00000347660.7:p.Ser285=
ENST00000357857.14:c.836C=	ENSP00000350523.9:p.Ser279=
ENST00000359984.12:c.998C=	ENSP00000353073.9:p.Ser333=
ENST00000360019.8:c.926C=	ENSP00000353116.3:p.Ser309=
ENST00000395653.9:c.539C=	ENSP00000379014.5:p.Ser180=
ENST00000561689.6:n.1411C=
ENST00000564091.6:c.338C=	ENSP00000454466.2:p.Ser113=
ENST00000565316.6:c.947C=	ENSP00000456117.1:p.Ser316=
ENST00000566824.6:n.1058C=
ENST00000567963.6:c.836C=	ENSP00000455387.2:p.Ser279=
ENST00000568076.6:n.1427C=
ENST00000568422.6:c.*235C=	ENSP00000455549.2:n.*235C=
ENST00000568452.6:n.1229C=
ENST00000568497.6:c.29C=	ENSP00000456414.2:p.Ser10=
ENST00000569430.7:c.998C=	ENSP00000454229.1:p.Ser333=
ENST00000628023.3:c.*294C=	ENSP00000486178.1:n.*294C=
ENST00000635861.1:c.*650C=	ENSP00000490034.1:n.*650C=
ENST00000635887.1:c.998C=	ENSP00000490709.1:p.Ser333=
ENST00000635958.1:n.1283C=
ENST00000635973.1:c.749C=	ENSP00000490363.1:p.Ser250=
ENST00000636017.1:c.*522C=	ENSP00000490538.1:n.*522C=
ENST00000636078.1:n.1120C=
ENST00000636147.2:c.998C= MANE Select	ENSP00000490105.1:p.Ser333=
ENST00000636172.1:c.*522C=	ENSP00000490505.1:n.*522C=
ENST00000636228.1:c.692C=	ENSP00000489627.1:p.Ser231=
ENST00000636351.1:n.892C=
ENST00000636503.1:c.998C=	ENSP00000489824.1:p.Ser333=
ENST00000636685.1:n.679C=
ENST00000636766.1:c.998C=	ENSP00000489841.1:p.Ser333=
ENST00000636839.1:n.1372C=
ENST00000636853.1:n.1913C=
ENST00000636866.1:c.998C=	ENSP00000490880.1:p.Ser333=
ENST00000636907.1:n.1149C=
ENST00000636977.1:n.2368C=
ENST00000637050.1:n.1387C=
ENST00000637100.1:c.947C=	ENSP00000490394.1:p.Ser316=
ENST00000637107.1:c.*522C=	ENSP00000490248.1:n.*522C=
ENST00000637184.1:c.998C=	ENSP00000489952.1:p.Ser333=
ENST00000637299.1:c.*807C=	ENSP00000489823.1:n.*807C=
ENST00000637376.1:c.998C=	ENSP00000490758.1:p.Ser333=
ENST00000637378.1:c.170C=	ENSP00000490831.1:p.Ser57=
ENST00000637578.1:c.*522C=	ENSP00000490206.1:n.*522C=
ENST00000637699.1:c.909C=	ENSP00000490049.1:n.909C=
ENST00000637745.1:c.337C=
ENST00000637871.1:c.*696C=	ENSP00000490670.1:n.*696C=
ENST00000638036.1:c.160C=
ENST00000333496.13:c.926C=	ENSP00000329171.9:p.Ser309=
ENST00000355477.9:c.*235C=	ENSP00000347660.6:n.*235C=
ENST00000357806.11:c.701C=	ENSP00000350457.7:p.Ser234=
ENST00000357857.13:c.836C=	ENSP00000350523.9:p.Ser279=
ENST00000359984.11:c.692C=	ENSP00000353073.8:p.Ser231=
ENST00000360019.6:c.998C=	ENSP00000353116.2:p.Ser333=
ENST00000395653.8:c.698C=	ENSP00000379014.4:p.Ser233=
ENST00000561689.5:n.967C=
ENST00000563874.5:n.2526C=
ENST00000564091.5:c.87C=
ENST00000565140.5:c.781C=	ENSP00000455342.1:n.781C=
ENST00000565316.5:c.947C=	ENSP00000456117.1:p.Ser316=
ENST00000565354.5:n.311C=
ENST00000566057.5:c.612C=	ENSP00000456693.1:n.612C=
ENST00000567963.5:c.906+314C=	ENSP00000455387.1:n.906+314C=
ENST00000568076.5:n.909C=
ENST00000568224.4:c.764C=	ENSP00000454253.1:p.Ser255=
ENST00000568422.5:c.*235C=	ENSP00000455549.1:n.*235C=
ENST00000568452.5:n.1126C=
ENST00000568558.5:c.539C=	ENSP00000455603.1:p.Ser180=
ENST00000569030.5:c.668C=	ENSP00000454680.1:p.Ser223=
ENST00000569430.5:c.998C=	ENSP00000454229.1:p.Ser333=
ENST00000628023.2:c.*294C=	ENSP00000486178.1:n.*294C=
ENST00000631023.2:c.906+314C=	ENSP00000486616.1:n.906+314C=
NM_000086.2:c.998C= , LRG_689t1:c.998C=	NP_000077.1:p.Ser333=
NM_001042432.1:c.998C= , LRG_689t2:c.998C=	NP_001035897.1:p.Ser333=
NM_001286104.1:c.926C=	NP_001273033.1:p.Ser309=
NM_001286105.1:c.698C=	NP_001273034.1:p.Ser233=
NM_001286109.1:c.764C=	NP_001273038.1:p.Ser255=
NM_001286110.1:c.836C=	NP_001273039.1:p.Ser279=
NM_001042432.2:c.998C= MANE Select	NP_001035897.1:p.Ser333=
NM_001286104.2:c.926C=	NP_001273033.1:p.Ser309=
NM_001286105.2:c.698C=	NP_001273034.1:p.Ser233=
NM_001286109.2:c.764C=	NP_001273038.1:p.Ser255=
NM_001286110.2:c.836C=	NP_001273039.1:p.Ser279=