Canonical Allele Identifier: CA392972923

Gene: CLN6

Linked Data

• dbSNP Id: rs1349280273
• MyVariant Identifiers: chr15:g.68502044G>A (hg19) ; chr15:g.68209706G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209706G>A , CM000677.2:g.68209706G>A	GRCh38
NC_000015.9:g.68502044G>A , CM000677.1:g.68502044G>A	GRCh37
NC_000015.8:g.66289098G>A	NCBI36
NG_008764.2:g.52506C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.596C>T MANE Select	ENSP00000249806.5:p.Ala199Val
ENST00000562767.2:c.84-12078C>T	ENSP00000456336.1:n.84-12078C>T
ENST00000563917.2:n.438C>T
ENST00000565471.6:c.137C>T	ENSP00000457384.1:p.Ala46Val
ENST00000635747.1:c.*499C>T	ENSP00000490627.1:n.*499C>T
ENST00000636212.1:c.*266C>T	ENSP00000489851.1:n.*266C>T
ENST00000636314.1:c.292C>T	ENSP00000490295.1:p.Pro98Ser
ENST00000636674.1:n.1698C>T
ENST00000636964.1:n.2124C>T
ENST00000637054.1:c.198+8830C>T	ENSP00000490807.1:n.198+8830C>T
ENST00000637223.1:c.*310C>T	ENSP00000490010.1:n.*310C>T
ENST00000637329.1:c.565C>T
ENST00000637450.1:c.*250C>T	ENSP00000490204.1:n.*250C>T
ENST00000637494.1:c.308C>T	ENSP00000490057.1:p.Ala103Val
ENST00000637667.1:c.497C>T	ENSP00000489843.1:p.Ala166Val
ENST00000637823.1:c.421C>T
ENST00000637888.1:c.198+8830C>T	ENSP00000490546.1:n.198+8830C>T
ENST00000638076.1:c.*199C>T	ENSP00000490373.1:n.*199C>T
ENST00000638144.1:n.239C>T
ENST00000646164.1:c.38+8830C>T
ENST00000249806.9:c.596C>T	ENSP00000249806.5:p.Ala199Val
ENST00000538696.5:c.692C>T	ENSP00000445770.1:p.Ala231Val
ENST00000562767.1:c.84-12078C>T	ENSP00000456336.1:n.84-12078C>T
ENST00000563917.1:n.496C>T
ENST00000564752.1:c.622C>T	ENSP00000457822.1:p.Pro208Ser
ENST00000565471.5:c.137C>T	ENSP00000457384.1:p.Ala46Val
ENST00000566347.5:c.407C>T	ENSP00000457783.1:p.Ala136Val
ENST00000567060.5:c.312C>T	ENSP00000454818.1:p.Cys104=
NM_017882.2:c.596C>T	NP_060352.1:p.Ala199Val
XR_931861.1:n.818C>T
NM_017882.3:c.596C>T MANE Select	NP_060352.1:p.Ala199Val