Canonical Allele Identifier: CA392972846

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68502012C>A (hg19) ; chr15:g.68209674C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209674C>A , CM000677.2:g.68209674C>A	GRCh38
NC_000015.9:g.68502012C>A , CM000677.1:g.68502012C>A	GRCh37
NC_000015.8:g.66289066C>A	NCBI36
NG_008764.2:g.52538G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.628G>T MANE Select	ENSP00000249806.5:p.Ala210Ser
ENST00000562767.2:c.84-12046G>T	ENSP00000456336.1:n.84-12046G>T
ENST00000563917.2:n.470G>T
ENST00000565471.6:c.169G>T	ENSP00000457384.1:p.Ala57Ser
ENST00000635747.1:c.*531G>T	ENSP00000490627.1:n.*531G>T
ENST00000636212.1:c.*298G>T	ENSP00000489851.1:n.*298G>T
ENST00000636314.1:c.*12G>T	ENSP00000490295.1:n.*12G>T
ENST00000636674.1:n.1730G>T
ENST00000636964.1:n.2156G>T
ENST00000637054.1:c.198+8862G>T	ENSP00000490807.1:n.198+8862G>T
ENST00000637329.1:c.597G>T
ENST00000637450.1:c.*282G>T	ENSP00000490204.1:n.*282G>T
ENST00000637494.1:c.340G>T	ENSP00000490057.1:p.Ala114Ser
ENST00000637667.1:c.529G>T	ENSP00000489843.1:p.Ala177Ser
ENST00000637823.1:c.453G>T
ENST00000637888.1:c.198+8862G>T	ENSP00000490546.1:n.198+8862G>T
ENST00000638076.1:c.*231G>T	ENSP00000490373.1:n.*231G>T
ENST00000638144.1:n.271G>T
ENST00000646164.1:c.38+8862G>T
ENST00000249806.9:c.628G>T	ENSP00000249806.5:p.Ala210Ser
ENST00000538696.5:c.724G>T	ENSP00000445770.1:p.Ala242Ser
ENST00000562767.1:c.84-12046G>T	ENSP00000456336.1:n.84-12046G>T
ENST00000563917.1:n.528G>T
ENST00000564752.1:c.*12G>T	ENSP00000457822.1:n.*12G>T
ENST00000565471.5:c.169G>T	ENSP00000457384.1:p.Ala57Ser
ENST00000566347.5:c.439G>T	ENSP00000457783.1:p.Ala147Ser
ENST00000567060.5:c.*26G>T	ENSP00000454818.1:n.*26G>T
NM_017882.2:c.628G>T	NP_060352.1:p.Ala210Ser
XR_931861.1:n.850G>T
NM_017882.3:c.628G>T MANE Select	NP_060352.1:p.Ala210Ser