Canonical Allele Identifier: CA392973437

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68504075A>T (hg19) ; chr15:g.68211737A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211737A>T , CM000677.2:g.68211737A>T	GRCh38
NC_000015.9:g.68504075A>T , CM000677.1:g.68504075A>T	GRCh37
NC_000015.8:g.66291129A>T	NCBI36
NG_008764.2:g.50475T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.424T>A MANE Select	ENSP00000249806.5:p.Tyr142Asn
ENST00000562767.2:c.84-14109T>A	ENSP00000456336.1:n.84-14109T>A
ENST00000563917.2:n.266T>A
ENST00000565471.6:c.84-1978T>A	ENSP00000457384.1:n.84-1978T>A
ENST00000635747.1:c.*327T>A	ENSP00000490627.1:n.*327T>A
ENST00000636212.1:c.302T>A	ENSP00000489851.1:p.Leu101Gln
ENST00000636314.1:c.183-419T>A	ENSP00000490295.1:n.183-419T>A
ENST00000636674.1:n.1407T>A
ENST00000636964.1:n.1596T>A
ENST00000637054.1:c.198+6799T>A	ENSP00000490807.1:n.198+6799T>A
ENST00000637223.1:c.*201-419T>A	ENSP00000490010.1:n.*201-419T>A
ENST00000637329.1:c.393T>A
ENST00000637450.1:c.*78T>A	ENSP00000490204.1:n.*78T>A
ENST00000637494.1:c.199-419T>A	ENSP00000490057.1:n.199-419T>A
ENST00000637667.1:c.325T>A	ENSP00000489843.1:p.Tyr109Asn
ENST00000637823.1:c.224-94T>A
ENST00000637888.1:c.198+6799T>A	ENSP00000490546.1:n.198+6799T>A
ENST00000638076.1:c.424T>A	ENSP00000490373.1:p.Tyr142Asn
ENST00000638144.1:n.130-419T>A
ENST00000646164.1:c.38+6799T>A
ENST00000249806.9:c.424T>A	ENSP00000249806.5:p.Tyr142Asn
ENST00000538696.5:c.520T>A	ENSP00000445770.1:p.Tyr174Asn
ENST00000562767.1:c.84-14109T>A	ENSP00000456336.1:n.84-14109T>A
ENST00000563917.1:n.205T>A
ENST00000564752.1:c.424T>A	ENSP00000457822.1:p.Tyr142Asn
ENST00000565471.5:c.84-1978T>A	ENSP00000457384.1:n.84-1978T>A
ENST00000566347.5:c.298-419T>A	ENSP00000457783.1:n.298-419T>A
ENST00000567060.5:c.298-2017T>A	ENSP00000454818.1:n.298-2017T>A
NM_017882.2:c.424T>A	NP_060352.1:p.Tyr142Asn
XR_931861.1:n.527T>A
NM_017882.3:c.424T>A MANE Select	NP_060352.1:p.Tyr142Asn