Canonical Allele Identifier: CA490912990

Gene: CLN6

Linked Data

• dbSNP Id: rs1362402324
• gnomAD v2: 15-68504139-G-A
• gnomAD v4: 15-68211801-G-A
• MyVariant Identifiers: chr15:g.68504139G>A (hg19) ; chr15:g.68211801G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211801G>A , CM000677.2:g.68211801G>A	GRCh38
NC_000015.9:g.68504139G>A , CM000677.1:g.68504139G>A	GRCh37
NC_000015.8:g.66291193G>A	NCBI36
NG_008764.2:g.50411C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.360C>T MANE Select	ENSP00000249806.5:p.Phe120=
ENST00000562767.2:c.84-14173C>T	ENSP00000456336.1:n.84-14173C>T
ENST00000563917.2:n.202C>T
ENST00000565471.6:c.84-2042C>T	ENSP00000457384.1:n.84-2042C>T
ENST00000635747.1:c.*263C>T	ENSP00000490627.1:n.*263C>T
ENST00000636212.1:c.298-60C>T	ENSP00000489851.1:n.298-60C>T
ENST00000636314.1:c.183-483C>T	ENSP00000490295.1:n.183-483C>T
ENST00000636674.1:n.1343C>T
ENST00000636964.1:n.1532C>T
ENST00000637054.1:c.198+6735C>T	ENSP00000490807.1:n.198+6735C>T
ENST00000637223.1:c.*201-483C>T	ENSP00000490010.1:n.*201-483C>T
ENST00000637329.1:c.329C>T
ENST00000637450.1:c.*14C>T	ENSP00000490204.1:n.*14C>T
ENST00000637494.1:c.199-483C>T	ENSP00000490057.1:n.199-483C>T
ENST00000637667.1:c.261C>T	ENSP00000489843.1:p.Phe87=
ENST00000637823.1:c.224-158C>T
ENST00000637888.1:c.198+6735C>T	ENSP00000490546.1:n.198+6735C>T
ENST00000638076.1:c.360C>T	ENSP00000490373.1:p.Phe120=
ENST00000638144.1:n.130-483C>T
ENST00000646164.1:c.38+6735C>T
ENST00000249806.9:c.360C>T	ENSP00000249806.5:p.Phe120=
ENST00000538696.5:c.456C>T	ENSP00000445770.1:p.Phe152=
ENST00000562767.1:c.84-14173C>T	ENSP00000456336.1:n.84-14173C>T
ENST00000563917.1:n.141C>T
ENST00000564752.1:c.360C>T	ENSP00000457822.1:p.Phe120=
ENST00000565471.5:c.84-2042C>T	ENSP00000457384.1:n.84-2042C>T
ENST00000566347.5:c.298-483C>T	ENSP00000457783.1:n.298-483C>T
ENST00000567060.5:c.298-2081C>T	ENSP00000454818.1:n.298-2081C>T
NM_017882.2:c.360C>T	NP_060352.1:p.Phe120=
XR_931861.1:n.463C>T
NM_017882.3:c.360C>T MANE Select	NP_060352.1:p.Phe120=