Canonical Allele Identifier: CA971080229

Gene: CLN6

Linked Data

• dbSNP Id: rs2093207039
• gnomAD v3: 15-68211936-T-G
• gnomAD v4: 15-68211936-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211936T>G , CM000677.2:g.68211936T>G	GRCh38
NC_000015.9:g.68504274T>G , CM000677.1:g.68504274T>G	GRCh37
NC_000015.8:g.66291328T>G	NCBI36
NG_008764.2:g.50276A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.298-73A>C MANE Select	ENSP00000249806.5:n.298-73A>C
ENST00000562767.2:c.84-14308A>C	ENSP00000456336.1:n.84-14308A>C
ENST00000563917.2:n.140-73A>C
ENST00000565471.6:c.84-2177A>C	ENSP00000457384.1:n.84-2177A>C
ENST00000635747.1:c.*201-73A>C	ENSP00000490627.1:n.*201-73A>C
ENST00000636212.1:c.298-195A>C	ENSP00000489851.1:n.298-195A>C
ENST00000636314.1:c.183-618A>C	ENSP00000490295.1:n.183-618A>C
ENST00000636674.1:n.1208A>C
ENST00000636964.1:n.1397A>C
ENST00000637054.1:c.198+6600A>C	ENSP00000490807.1:n.198+6600A>C
ENST00000637223.1:c.*201-618A>C	ENSP00000490010.1:n.*201-618A>C
ENST00000637329.1:c.209-15A>C
ENST00000637450.1:c.183-73A>C	ENSP00000490204.1:n.183-73A>C
ENST00000637494.1:c.199-618A>C	ENSP00000490057.1:n.199-618A>C
ENST00000637667.1:c.199-73A>C	ENSP00000489843.1:n.199-73A>C
ENST00000637823.1:c.224-293A>C
ENST00000637888.1:c.198+6600A>C	ENSP00000490546.1:n.198+6600A>C
ENST00000638076.1:c.298-73A>C	ENSP00000490373.1:n.298-73A>C
ENST00000638144.1:n.130-618A>C
ENST00000646164.1:c.38+6600A>C
ENST00000249806.9:c.298-73A>C	ENSP00000249806.5:n.298-73A>C
ENST00000538696.5:c.394-73A>C	ENSP00000445770.1:n.394-73A>C
ENST00000562767.1:c.84-14308A>C	ENSP00000456336.1:n.84-14308A>C
ENST00000563917.1:n.79-73A>C
ENST00000564752.1:c.298-73A>C	ENSP00000457822.1:n.298-73A>C
ENST00000565471.5:c.84-2177A>C	ENSP00000457384.1:n.84-2177A>C
ENST00000566347.5:c.298-618A>C	ENSP00000457783.1:n.298-618A>C
ENST00000567060.5:c.298-2216A>C	ENSP00000454818.1:n.298-2216A>C
NM_017882.2:c.298-73A>C	NP_060352.1:n.298-73A>C
XR_931861.1:n.401-73A>C
NM_017882.3:c.298-73A>C MANE Select	NP_060352.1:n.298-73A>C