Canonical Allele Identifier: CA392972976

Gene: CLN6

Linked Data

• gnomAD v4: 15-68209726-G-A
• MyVariant Identifiers: chr15:g.68502064G>A (hg19) ; chr15:g.68209726G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209726G>A , CM000677.2:g.68209726G>A	GRCh38
NC_000015.9:g.68502064G>A , CM000677.1:g.68502064G>A	GRCh37
NC_000015.8:g.66289118G>A	NCBI36
NG_008764.2:g.52486C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.576C>T MANE Select	ENSP00000249806.5:p.Tyr192=
ENST00000562767.2:c.84-12098C>T	ENSP00000456336.1:n.84-12098C>T
ENST00000563917.2:n.418C>T
ENST00000565471.6:c.117C>T	ENSP00000457384.1:p.Tyr39=
ENST00000635747.1:c.*479C>T	ENSP00000490627.1:n.*479C>T
ENST00000636212.1:c.*246C>T	ENSP00000489851.1:n.*246C>T
ENST00000636314.1:c.272C>T	ENSP00000490295.1:p.Thr91Ile
ENST00000636674.1:n.1678C>T
ENST00000636964.1:n.2104C>T
ENST00000637054.1:c.198+8810C>T	ENSP00000490807.1:n.198+8810C>T
ENST00000637223.1:c.*290C>T	ENSP00000490010.1:n.*290C>T
ENST00000637329.1:c.545C>T
ENST00000637450.1:c.*230C>T	ENSP00000490204.1:n.*230C>T
ENST00000637494.1:c.288C>T	ENSP00000490057.1:p.Tyr96=
ENST00000637667.1:c.477C>T	ENSP00000489843.1:p.Tyr159=
ENST00000637823.1:c.401C>T
ENST00000637888.1:c.198+8810C>T	ENSP00000490546.1:n.198+8810C>T
ENST00000638076.1:c.*179C>T	ENSP00000490373.1:n.*179C>T
ENST00000638144.1:n.219C>T
ENST00000646164.1:c.38+8810C>T
ENST00000249806.9:c.576C>T	ENSP00000249806.5:p.Tyr192=
ENST00000538696.5:c.672C>T	ENSP00000445770.1:p.Tyr224=
ENST00000562767.1:c.84-12098C>T	ENSP00000456336.1:n.84-12098C>T
ENST00000563917.1:n.476C>T
ENST00000564752.1:c.602C>T	ENSP00000457822.1:p.Thr201Ile
ENST00000565471.5:c.117C>T	ENSP00000457384.1:p.Tyr39=
ENST00000566347.5:c.387C>T	ENSP00000457783.1:p.Tyr129=
ENST00000567060.5:c.298-6C>T	ENSP00000454818.1:n.298-6C>T
NM_017882.2:c.576C>T	NP_060352.1:p.Tyr192=
XR_931861.1:n.798C>T
NM_017882.3:c.576C>T MANE Select	NP_060352.1:p.Tyr192=