Canonical Allele Identifier: CA490913057

Gene: CLN6

Linked Data

• gnomAD v4: 15-68211822-C-A
• MyVariant Identifiers: chr15:g.68504160C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211822C>A , CM000677.2:g.68211822C>A	GRCh38
NC_000015.9:g.68504160C>A , CM000677.1:g.68504160C>A	GRCh37
NC_000015.8:g.66291214C>A	NCBI36
NG_008764.2:g.50390G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.339G>T MANE Select	ENSP00000249806.5:p.Thr113=
ENST00000562767.2:c.84-14194G>T	ENSP00000456336.1:n.84-14194G>T
ENST00000563917.2:n.181G>T
ENST00000565471.6:c.84-2063G>T	ENSP00000457384.1:n.84-2063G>T
ENST00000635747.1:c.*242G>T	ENSP00000490627.1:n.*242G>T
ENST00000636212.1:c.298-81G>T	ENSP00000489851.1:n.298-81G>T
ENST00000636314.1:c.183-504G>T	ENSP00000490295.1:n.183-504G>T
ENST00000636674.1:n.1322G>T
ENST00000636964.1:n.1511G>T
ENST00000637054.1:c.198+6714G>T	ENSP00000490807.1:n.198+6714G>T
ENST00000637223.1:c.*201-504G>T	ENSP00000490010.1:n.*201-504G>T
ENST00000637329.1:c.308G>T
ENST00000637450.1:c.224G>T	ENSP00000490204.1:p.Arg75Leu
ENST00000637494.1:c.199-504G>T	ENSP00000490057.1:n.199-504G>T
ENST00000637667.1:c.240G>T	ENSP00000489843.1:p.Thr80=
ENST00000637823.1:c.224-179G>T
ENST00000637888.1:c.198+6714G>T	ENSP00000490546.1:n.198+6714G>T
ENST00000638076.1:c.339G>T	ENSP00000490373.1:p.Thr113=
ENST00000638144.1:n.130-504G>T
ENST00000646164.1:c.38+6714G>T
ENST00000249806.9:c.339G>T	ENSP00000249806.5:p.Thr113=
ENST00000538696.5:c.435G>T	ENSP00000445770.1:p.Thr145=
ENST00000562767.1:c.84-14194G>T	ENSP00000456336.1:n.84-14194G>T
ENST00000563917.1:n.120G>T
ENST00000564752.1:c.339G>T	ENSP00000457822.1:p.Thr113=
ENST00000565471.5:c.84-2063G>T	ENSP00000457384.1:n.84-2063G>T
ENST00000566347.5:c.298-504G>T	ENSP00000457783.1:n.298-504G>T
ENST00000567060.5:c.298-2102G>T	ENSP00000454818.1:n.298-2102G>T
NM_017882.2:c.339G>T	NP_060352.1:p.Thr113=
XR_931861.1:n.442G>T
NM_017882.3:c.339G>T MANE Select	NP_060352.1:p.Thr113=