Canonical Allele Identifier: CA392973111

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68503610T>A (hg19) ; chr15:g.68211272T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211272T>A , CM000677.2:g.68211272T>A	GRCh38
NC_000015.9:g.68503610T>A , CM000677.1:g.68503610T>A	GRCh37
NC_000015.8:g.66290664T>A	NCBI36
NG_008764.2:g.50940A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.533A>T MANE Select	ENSP00000249806.5:p.His178Leu
ENST00000562767.2:c.84-13644A>T	ENSP00000456336.1:n.84-13644A>T
ENST00000563917.2:n.375A>T
ENST00000565471.6:c.84-1513A>T	ENSP00000457384.1:n.84-1513A>T
ENST00000635747.1:c.*436A>T	ENSP00000490627.1:n.*436A>T
ENST00000636212.1:c.*203A>T	ENSP00000489851.1:n.*203A>T
ENST00000636314.1:c.229A>T	ENSP00000490295.1:p.Thr77Ser
ENST00000636674.1:n.1635A>T
ENST00000636964.1:n.2061A>T
ENST00000637054.1:c.198+7264A>T	ENSP00000490807.1:n.198+7264A>T
ENST00000637223.1:c.*247A>T	ENSP00000490010.1:n.*247A>T
ENST00000637329.1:c.502A>T
ENST00000637450.1:c.*187A>T	ENSP00000490204.1:n.*187A>T
ENST00000637494.1:c.245A>T	ENSP00000490057.1:p.His82Leu
ENST00000637667.1:c.434A>T	ENSP00000489843.1:p.His145Leu
ENST00000637823.1:c.358A>T
ENST00000637888.1:c.198+7264A>T	ENSP00000490546.1:n.198+7264A>T
ENST00000638076.1:c.*136A>T	ENSP00000490373.1:n.*136A>T
ENST00000638144.1:n.176A>T
ENST00000646164.1:c.38+7264A>T
ENST00000249806.9:c.533A>T	ENSP00000249806.5:p.His178Leu
ENST00000538696.5:c.629A>T	ENSP00000445770.1:p.His210Leu
ENST00000562767.1:c.84-13644A>T	ENSP00000456336.1:n.84-13644A>T
ENST00000563917.1:n.433A>T
ENST00000564752.1:c.559A>T	ENSP00000457822.1:p.Thr187Ser
ENST00000565471.5:c.84-1513A>T	ENSP00000457384.1:n.84-1513A>T
ENST00000566347.5:c.344A>T	ENSP00000457783.1:p.His115Leu
ENST00000567060.5:c.298-1552A>T	ENSP00000454818.1:n.298-1552A>T
NM_017882.2:c.533A>T	NP_060352.1:p.His178Leu
XR_931861.1:n.755A>T
NM_017882.3:c.533A>T MANE Select	NP_060352.1:p.His178Leu