Canonical Allele Identifier: CA2632489677

Gene: CLN3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28482415G>T , CM000678.2:g.28482415G>T	GRCh38
NC_000016.9:g.28493736G>T , CM000678.1:g.28493736G>T	GRCh37
NC_000016.8:g.28401237G>T	NCBI36
NG_008654.2:g.14888C>A , LRG_689:g.14888C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001042432.2:c.907-33C>A MANE Select	NP_001035897.1:n.907-33C>A
ENST00000636147.2:c.907-33C>A MANE Select	ENSP00000490105.1:n.907-33C>A
NM_000086.2:c.907-33C>A , LRG_689t1:c.907-33C>A	NP_000077.1:n.907-33C>A
NM_001042432.1:c.907-33C>A , LRG_689t2:c.907-33C>A	NP_001035897.1:n.907-33C>A
NM_001286104.1:c.835-33C>A	NP_001273033.1:n.835-33C>A
NM_001286104.2:c.835-33C>A	NP_001273033.1:n.835-33C>A
NM_001286105.1:c.607-33C>A	NP_001273034.1:n.607-33C>A
NM_001286105.2:c.607-33C>A	NP_001273034.1:n.607-33C>A
NM_001286109.1:c.673-33C>A	NP_001273038.1:n.673-33C>A
NM_001286109.2:c.673-33C>A	NP_001273038.1:n.673-33C>A
NM_001286110.1:c.745-33C>A	NP_001273039.1:n.745-33C>A
NM_001286110.2:c.745-33C>A	NP_001273039.1:n.745-33C>A
ENST00000333496.13:c.835-33C>A	ENSP00000329171.9:n.835-33C>A
ENST00000333496.14:c.835-33C>A	ENSP00000329171.9:n.835-33C>A
ENST00000355477.10:c.763-33C>A	ENSP00000347660.7:n.763-33C>A
ENST00000355477.9:c.*144-33C>A	ENSP00000347660.6:n.*144-33C>A
ENST00000357806.11:c.610-33C>A	ENSP00000350457.7:n.610-33C>A
ENST00000357857.13:c.745-33C>A	ENSP00000350523.9:n.745-33C>A
ENST00000357857.14:c.745-33C>A	ENSP00000350523.9:n.745-33C>A
ENST00000359984.11:c.601-33C>A	ENSP00000353073.8:n.601-33C>A
ENST00000359984.12:c.907-33C>A	ENSP00000353073.9:n.907-33C>A
ENST00000360019.6:c.907-33C>A	ENSP00000353116.2:n.907-33C>A
ENST00000360019.8:c.835-33C>A	ENSP00000353116.3:n.835-33C>A
ENST00000395653.8:c.607-33C>A	ENSP00000379014.4:n.607-33C>A
ENST00000395653.9:c.448-33C>A	ENSP00000379014.5:n.448-33C>A
ENST00000561689.5:n.748-33C>A
ENST00000561689.6:n.1192-33C>A
ENST00000563874.5:n.2402C>A
ENST00000564091.6:c.247-33C>A	ENSP00000454466.2:n.247-33C>A
ENST00000564574.5:n.955-33C>A
ENST00000565140.5:c.690-33C>A	ENSP00000455342.1:n.690-33C>A
ENST00000565316.5:c.856-33C>A	ENSP00000456117.1:n.856-33C>A
ENST00000565316.6:c.856-33C>A	ENSP00000456117.1:n.856-33C>A
ENST00000565354.5:n.187C>A
ENST00000566057.5:c.521-33C>A	ENSP00000456693.1:n.521-33C>A
ENST00000566824.6:n.967-33C>A
ENST00000567963.5:c.906+62C>A	ENSP00000455387.1:n.906+62C>A
ENST00000567963.6:c.745-33C>A	ENSP00000455387.2:n.745-33C>A
ENST00000568076.5:n.690-33C>A
ENST00000568076.6:n.1175C>A
ENST00000568224.4:c.673-33C>A	ENSP00000454253.1:n.673-33C>A
ENST00000568422.5:c.*144-33C>A	ENSP00000455549.1:n.*144-33C>A
ENST00000568422.6:c.*144-33C>A	ENSP00000455549.2:n.*144-33C>A
ENST00000568452.5:n.907-33C>A
ENST00000568452.6:n.1010-33C>A
ENST00000568472.5:n.387-33C>A
ENST00000568472.6:n.924C>A
ENST00000568497.5:c.*203-33C>A	ENSP00000456414.1:n.*203-33C>A
ENST00000568497.6:c.-63-33C>A	ENSP00000456414.2:n.-63-33C>A
ENST00000568558.5:c.448-33C>A	ENSP00000455603.1:n.448-33C>A
ENST00000569030.5:c.577-33C>A	ENSP00000454680.1:n.577-33C>A
ENST00000569430.5:c.907-33C>A	ENSP00000454229.1:n.907-33C>A
ENST00000569430.7:c.907-33C>A	ENSP00000454229.1:n.907-33C>A
ENST00000628023.2:c.*203-33C>A	ENSP00000486178.1:n.*203-33C>A
ENST00000628023.3:c.*203-33C>A	ENSP00000486178.1:n.*203-33C>A
ENST00000631023.2:c.906+62C>A	ENSP00000486616.1:n.906+62C>A
ENST00000635861.1:c.*431-33C>A	ENSP00000490034.1:n.*431-33C>A
ENST00000635887.1:c.907-33C>A	ENSP00000490709.1:n.907-33C>A
ENST00000635958.1:n.1159C>A
ENST00000635973.1:c.658-33C>A	ENSP00000490363.1:n.658-33C>A
ENST00000636017.1:c.*431-33C>A	ENSP00000490538.1:n.*431-33C>A
ENST00000636078.1:n.1029-33C>A
ENST00000636172.1:c.*431-33C>A	ENSP00000490505.1:n.*431-33C>A
ENST00000636228.1:c.601-33C>A	ENSP00000489627.1:n.601-33C>A
ENST00000636351.1:n.768C>A
ENST00000636503.1:c.907-33C>A	ENSP00000489824.1:n.907-33C>A
ENST00000636685.1:n.555C>A
ENST00000636766.1:c.907-33C>A	ENSP00000489841.1:n.907-33C>A
ENST00000636839.1:n.1120C>A
ENST00000636853.1:n.1822-33C>A
ENST00000636866.1:c.907-33C>A	ENSP00000490880.1:n.907-33C>A
ENST00000636907.1:n.1058-33C>A
ENST00000636977.1:n.2116C>A
ENST00000637050.1:n.1135C>A
ENST00000637100.1:c.856-33C>A	ENSP00000490394.1:n.856-33C>A
ENST00000637107.1:c.*431-33C>A	ENSP00000490248.1:n.*431-33C>A
ENST00000637184.1:c.907-33C>A	ENSP00000489952.1:n.907-33C>A
ENST00000637299.1:c.*716-33C>A	ENSP00000489823.1:n.*716-33C>A
ENST00000637376.1:c.907-33C>A	ENSP00000490758.1:n.907-33C>A
ENST00000637378.1:c.79-33C>A	ENSP00000490831.1:n.79-33C>A
ENST00000637578.1:c.*431-33C>A	ENSP00000490206.1:n.*431-33C>A
ENST00000637699.1:c.690-33C>A	ENSP00000490049.1:n.690-33C>A
ENST00000637745.1:c.246-33C>A
ENST00000637871.1:c.*572C>A	ENSP00000490670.1:n.*572C>A
ENST00000638036.1:c.69-33C>A