Canonical Allele Identifier: CA392972783

Gene: CLN6

Linked Data

• dbSNP Id: rs764571295
• MyVariant Identifiers: chr15:g.68501978T>A (hg19) ; chr15:g.68209640T>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.662A>T MANE Select	ENSP00000249806.5:p.Tyr221Phe
ENST00000562767.2:c.84-12012A>T	ENSP00000456336.1:n.84-12012A>T
ENST00000563917.2:n.504A>T
ENST00000565471.6:c.203A>T	ENSP00000457384.1:p.Tyr68Phe
ENST00000635747.1:c.*565A>T	ENSP00000490627.1:n.*565A>T
ENST00000636212.1:c.*332A>T	ENSP00000489851.1:n.*332A>T
ENST00000636674.1:n.1764A>T
ENST00000636964.1:n.2190A>T
ENST00000637054.1:c.198+8896A>T	ENSP00000490807.1:n.198+8896A>T
ENST00000637329.1:c.631A>T
ENST00000637450.1:c.*316A>T	ENSP00000490204.1:n.*316A>T
ENST00000637494.1:c.374A>T	ENSP00000490057.1:p.Tyr125Phe
ENST00000637667.1:c.563A>T	ENSP00000489843.1:p.Tyr188Phe
ENST00000637823.1:c.487A>T
ENST00000637888.1:c.198+8896A>T	ENSP00000490546.1:n.198+8896A>T
ENST00000638076.1:c.*265A>T	ENSP00000490373.1:n.*265A>T
ENST00000638144.1:n.305A>T
ENST00000646164.1:c.38+8896A>T
ENST00000249806.9:c.662A>T	ENSP00000249806.5:p.Tyr221Phe
ENST00000538696.5:c.758A>T	ENSP00000445770.1:p.Tyr253Phe
ENST00000562767.1:c.84-12012A>T	ENSP00000456336.1:n.84-12012A>T
ENST00000563917.1:n.562A>T
ENST00000564752.1:c.*46A>T	ENSP00000457822.1:n.*46A>T
ENST00000565471.5:c.203A>T	ENSP00000457384.1:p.Tyr68Phe
ENST00000566347.5:c.473A>T	ENSP00000457783.1:p.Tyr158Phe
ENST00000567060.5:c.*60A>T	ENSP00000454818.1:n.*60A>T
NM_017882.2:c.662A>T	NP_060352.1:p.Tyr221Phe
XR_931861.1:n.884A>T
NM_017882.3:c.662A>T MANE Select	NP_060352.1:p.Tyr221Phe