Canonical Allele Identifier: CA7630517

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209640T>G , CM000677.2:g.68209640T>G	GRCh38
NC_000015.9:g.68501978T>G , CM000677.1:g.68501978T>G	GRCh37
NC_000015.8:g.66289032T>G	NCBI36
NG_008764.2:g.52572A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_017882.3:c.662A>C MANE Select	NP_060352.1:p.Tyr221Ser
ENST00000249806.11:c.662A>C MANE Select	ENSP00000249806.5:p.Tyr221Ser
NM_017882.2:c.662A>C	NP_060352.1:p.Tyr221Ser
ENST00000249806.9:c.662A>C	ENSP00000249806.5:p.Tyr221Ser
ENST00000538696.5:c.758A>C	ENSP00000445770.1:p.Tyr253Ser
ENST00000562767.1:c.84-12012A>C	ENSP00000456336.1:n.84-12012A>C
ENST00000562767.2:c.84-12012A>C	ENSP00000456336.1:n.84-12012A>C
ENST00000563917.1:n.562A>C
ENST00000563917.2:n.504A>C
ENST00000564752.1:c.*46A>C	ENSP00000457822.1:n.*46A>C
ENST00000565471.5:c.203A>C	ENSP00000457384.1:p.Tyr68Ser
ENST00000565471.6:c.203A>C	ENSP00000457384.1:p.Tyr68Ser
ENST00000566347.5:c.473A>C	ENSP00000457783.1:p.Tyr158Ser
ENST00000567060.5:c.*60A>C	ENSP00000454818.1:n.*60A>C
ENST00000635747.1:c.*565A>C	ENSP00000490627.1:n.*565A>C
ENST00000636212.1:c.*332A>C	ENSP00000489851.1:n.*332A>C
ENST00000636674.1:n.1764A>C
ENST00000636964.1:n.2190A>C
ENST00000637054.1:c.198+8896A>C	ENSP00000490807.1:n.198+8896A>C
ENST00000637329.1:c.631A>C
ENST00000637450.1:c.*316A>C	ENSP00000490204.1:n.*316A>C
ENST00000637494.1:c.374A>C	ENSP00000490057.1:p.Tyr125Ser
ENST00000637667.1:c.563A>C	ENSP00000489843.1:p.Tyr188Ser
ENST00000637823.1:c.487A>C
ENST00000637888.1:c.198+8896A>C	ENSP00000490546.1:n.198+8896A>C
ENST00000638076.1:c.*265A>C	ENSP00000490373.1:n.*265A>C
ENST00000638144.1:n.305A>C
ENST00000646164.1:c.38+8896A>C
XR_931861.1:n.884A>C