Canonical Allele Identifier: CA7630487

Gene: CLN6

Linked Data

• dbSNP Id: rs779750025
• ExAC: 15:68500704 G / A
• gnomAD v2: 15-68500704-G-A
• gnomAD v4: 15-68208366-G-A
• MyVariant Identifiers: chr15:g.68500704G>A (hg19) ; chr15:g.68208366G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208366G>A , CM000677.2:g.68208366G>A	GRCh38
NC_000015.9:g.68500704G>A , CM000677.1:g.68500704G>A	GRCh37
NC_000015.8:g.66287758G>A	NCBI36
NG_008764.2:g.53846C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.710C>T MANE Select	ENSP00000249806.5:p.Thr237Ile
ENST00000562767.2:c.84-10738C>T	ENSP00000456336.1:n.84-10738C>T
ENST00000563917.2:n.552C>T
ENST00000565471.6:c.251C>T	ENSP00000457384.1:p.Thr84Ile
ENST00000635747.1:c.*613C>T	ENSP00000490627.1:n.*613C>T
ENST00000636212.1:c.*380C>T	ENSP00000489851.1:n.*380C>T
ENST00000636674.1:n.1812C>T
ENST00000636964.1:n.2238C>T
ENST00000637054.1:c.198+10170C>T	ENSP00000490807.1:n.198+10170C>T
ENST00000637329.1:c.679C>T
ENST00000637450.1:c.*364C>T	ENSP00000490204.1:n.*364C>T
ENST00000637494.1:c.422C>T	ENSP00000490057.1:p.Thr141Ile
ENST00000637667.1:c.611C>T	ENSP00000489843.1:p.Thr204Ile
ENST00000637823.1:c.535C>T
ENST00000637888.1:c.198+10170C>T	ENSP00000490546.1:n.198+10170C>T
ENST00000638076.1:c.*313C>T	ENSP00000490373.1:n.*313C>T
ENST00000638144.1:n.353C>T
ENST00000646164.1:c.39-8685C>T
ENST00000249806.9:c.710C>T	ENSP00000249806.5:p.Thr237Ile
ENST00000538696.5:c.806C>T	ENSP00000445770.1:p.Thr269Ile
ENST00000562767.1:c.84-10738C>T	ENSP00000456336.1:n.84-10738C>T
ENST00000564752.1:c.*94C>T	ENSP00000457822.1:n.*94C>T
ENST00000565471.5:c.251C>T	ENSP00000457384.1:p.Thr84Ile
ENST00000566347.5:c.521C>T	ENSP00000457783.1:p.Thr174Ile
ENST00000567060.5:c.*108C>T	ENSP00000454818.1:n.*108C>T
NM_017882.2:c.710C>T	NP_060352.1:p.Thr237Ile
NM_017882.3:c.710C>T MANE Select	NP_060352.1:p.Thr237Ile