Canonical Allele Identifier: CA392972848

Gene: CLN6

Linked Data

• gnomAD v4: 15-68209674-C-T
• MyVariant Identifiers: chr15:g.68502012C>T (hg19) ; chr15:g.68209674C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.628G>A MANE Select	ENSP00000249806.5:p.Ala210Thr
ENST00000562767.2:c.84-12046G>A	ENSP00000456336.1:n.84-12046G>A
ENST00000563917.2:n.470G>A
ENST00000565471.6:c.169G>A	ENSP00000457384.1:p.Ala57Thr
ENST00000635747.1:c.*531G>A	ENSP00000490627.1:n.*531G>A
ENST00000636212.1:c.*298G>A	ENSP00000489851.1:n.*298G>A
ENST00000636314.1:c.*12G>A	ENSP00000490295.1:n.*12G>A
ENST00000636674.1:n.1730G>A
ENST00000636964.1:n.2156G>A
ENST00000637054.1:c.198+8862G>A	ENSP00000490807.1:n.198+8862G>A
ENST00000637329.1:c.597G>A
ENST00000637450.1:c.*282G>A	ENSP00000490204.1:n.*282G>A
ENST00000637494.1:c.340G>A	ENSP00000490057.1:p.Ala114Thr
ENST00000637667.1:c.529G>A	ENSP00000489843.1:p.Ala177Thr
ENST00000637823.1:c.453G>A
ENST00000637888.1:c.198+8862G>A	ENSP00000490546.1:n.198+8862G>A
ENST00000638076.1:c.*231G>A	ENSP00000490373.1:n.*231G>A
ENST00000638144.1:n.271G>A
ENST00000646164.1:c.38+8862G>A
ENST00000249806.9:c.628G>A	ENSP00000249806.5:p.Ala210Thr
ENST00000538696.5:c.724G>A	ENSP00000445770.1:p.Ala242Thr
ENST00000562767.1:c.84-12046G>A	ENSP00000456336.1:n.84-12046G>A
ENST00000563917.1:n.528G>A
ENST00000564752.1:c.*12G>A	ENSP00000457822.1:n.*12G>A
ENST00000565471.5:c.169G>A	ENSP00000457384.1:p.Ala57Thr
ENST00000566347.5:c.439G>A	ENSP00000457783.1:p.Ala147Thr
ENST00000567060.5:c.*26G>A	ENSP00000454818.1:n.*26G>A
NM_017882.2:c.628G>A	NP_060352.1:p.Ala210Thr
XR_931861.1:n.850G>A
NM_017882.3:c.628G>A MANE Select	NP_060352.1:p.Ala210Thr