Canonical Allele Identifier: CA7630589

Gene: CLN6

Linked Data

• dbSNP Id: rs779314925
• ExAC: 15:68503954 C / G
• gnomAD v2: 15-68503954-C-G
• gnomAD v4: 15-68211616-C-G
• MyVariant Identifiers: chr15:g.68503954C>G (hg19) ; chr15:g.68211616C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211616C>G , CM000677.2:g.68211616C>G	GRCh38
NC_000015.9:g.68503954C>G , CM000677.1:g.68503954C>G	GRCh37
NC_000015.8:g.66291008C>G	NCBI36
NG_008764.2:g.50596G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.486+59G>C MANE Select	ENSP00000249806.5:n.486+59G>C
ENST00000562767.2:c.84-13988G>C	ENSP00000456336.1:n.84-13988G>C
ENST00000563917.2:n.328+59G>C
ENST00000565471.6:c.84-1857G>C	ENSP00000457384.1:n.84-1857G>C
ENST00000635747.1:c.*389+59G>C	ENSP00000490627.1:n.*389+59G>C
ENST00000636212.1:c.*96G>C	ENSP00000489851.1:n.*96G>C
ENST00000636314.1:c.183-298G>C	ENSP00000490295.1:n.183-298G>C
ENST00000636674.1:n.1528G>C
ENST00000636964.1:n.1717G>C
ENST00000637054.1:c.198+6920G>C	ENSP00000490807.1:n.198+6920G>C
ENST00000637223.1:c.*201-298G>C	ENSP00000490010.1:n.*201-298G>C
ENST00000637329.1:c.455+59G>C
ENST00000637450.1:c.*140+59G>C	ENSP00000490204.1:n.*140+59G>C
ENST00000637494.1:c.199-298G>C	ENSP00000490057.1:n.199-298G>C
ENST00000637667.1:c.387+59G>C	ENSP00000489843.1:n.387+59G>C
ENST00000637823.1:c.251G>C
ENST00000637888.1:c.198+6920G>C	ENSP00000490546.1:n.198+6920G>C
ENST00000638076.1:c.*29G>C	ENSP00000490373.1:n.*29G>C
ENST00000638144.1:n.130-298G>C
ENST00000646164.1:c.38+6920G>C
ENST00000249806.9:c.486+59G>C	ENSP00000249806.5:n.486+59G>C
ENST00000538696.5:c.582+59G>C	ENSP00000445770.1:n.582+59G>C
ENST00000562767.1:c.84-13988G>C	ENSP00000456336.1:n.84-13988G>C
ENST00000563917.1:n.326G>C
ENST00000564752.1:c.512+33G>C	ENSP00000457822.1:n.512+33G>C
ENST00000565471.5:c.84-1857G>C	ENSP00000457384.1:n.84-1857G>C
ENST00000566347.5:c.298-298G>C	ENSP00000457783.1:n.298-298G>C
ENST00000567060.5:c.298-1896G>C	ENSP00000454818.1:n.298-1896G>C
NM_017882.2:c.486+59G>C	NP_060352.1:n.486+59G>C
XR_931861.1:n.648G>C
NM_017882.3:c.486+59G>C MANE Select	NP_060352.1:n.486+59G>C