Canonical Allele Identifier: CA2731154443

Gene: CLN6

Linked Data

• dbSNP Id: rs2141136776

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209139G>A , CM000677.2:g.68209139G>A	GRCh38
NC_000015.9:g.68501477G>A , CM000677.1:g.68501477G>A	GRCh37
NC_000015.8:g.66288531G>A	NCBI36
NG_008764.2:g.53073C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.665+498C>T MANE Select	ENSP00000249806.5:n.665+498C>T
ENST00000562767.2:c.84-11511C>T	ENSP00000456336.1:n.84-11511C>T
ENST00000563917.2:n.507+498C>T
ENST00000565471.6:c.206+498C>T	ENSP00000457384.1:n.206+498C>T
ENST00000635747.1:c.*568+498C>T	ENSP00000490627.1:n.*568+498C>T
ENST00000636212.1:c.*335+498C>T	ENSP00000489851.1:n.*335+498C>T
ENST00000636674.1:n.1767+498C>T
ENST00000636964.1:n.2193+498C>T
ENST00000637054.1:c.198+9397C>T	ENSP00000490807.1:n.198+9397C>T
ENST00000637329.1:c.634+498C>T
ENST00000637450.1:c.*319+498C>T	ENSP00000490204.1:n.*319+498C>T
ENST00000637494.1:c.377+498C>T	ENSP00000490057.1:n.377+498C>T
ENST00000637667.1:c.566+498C>T	ENSP00000489843.1:n.566+498C>T
ENST00000637823.1:c.490+498C>T
ENST00000637888.1:c.198+9397C>T	ENSP00000490546.1:n.198+9397C>T
ENST00000638076.1:c.*268+498C>T	ENSP00000490373.1:n.*268+498C>T
ENST00000638144.1:n.308+498C>T
ENST00000646164.1:c.38+9397C>T
ENST00000249806.9:c.665+498C>T	ENSP00000249806.5:n.665+498C>T
ENST00000538696.5:c.761+498C>T	ENSP00000445770.1:n.761+498C>T
ENST00000562767.1:c.84-11511C>T	ENSP00000456336.1:n.84-11511C>T
ENST00000564752.1:c.*49+498C>T	ENSP00000457822.1:n.*49+498C>T
ENST00000565471.5:c.206+498C>T	ENSP00000457384.1:n.206+498C>T
ENST00000566347.5:c.476+498C>T	ENSP00000457783.1:n.476+498C>T
ENST00000567060.5:c.*63+498C>T	ENSP00000454818.1:n.*63+498C>T
NM_017882.2:c.665+498C>T	NP_060352.1:n.665+498C>T
XR_931861.1:n.887+498C>T
NM_017882.3:c.665+498C>T MANE Select	NP_060352.1:n.665+498C>T