Canonical Allele Identifier: CA392972824

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68501997C>T (hg19) ; chr15:g.68209659C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209659C>T , CM000677.2:g.68209659C>T	GRCh38
NC_000015.9:g.68501997C>T , CM000677.1:g.68501997C>T	GRCh37
NC_000015.8:g.66289051C>T	NCBI36
NG_008764.2:g.52553G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.643G>A MANE Select	ENSP00000249806.5:p.Ala215Thr
ENST00000562767.2:c.84-12031G>A	ENSP00000456336.1:n.84-12031G>A
ENST00000563917.2:n.485G>A
ENST00000565471.6:c.184G>A	ENSP00000457384.1:p.Ala62Thr
ENST00000635747.1:c.*546G>A	ENSP00000490627.1:n.*546G>A
ENST00000636212.1:c.*313G>A	ENSP00000489851.1:n.*313G>A
ENST00000636674.1:n.1745G>A
ENST00000636964.1:n.2171G>A
ENST00000637054.1:c.198+8877G>A	ENSP00000490807.1:n.198+8877G>A
ENST00000637329.1:c.612G>A
ENST00000637450.1:c.*297G>A	ENSP00000490204.1:n.*297G>A
ENST00000637494.1:c.355G>A	ENSP00000490057.1:p.Ala119Thr
ENST00000637667.1:c.544G>A	ENSP00000489843.1:p.Ala182Thr
ENST00000637823.1:c.468G>A
ENST00000637888.1:c.198+8877G>A	ENSP00000490546.1:n.198+8877G>A
ENST00000638076.1:c.*246G>A	ENSP00000490373.1:n.*246G>A
ENST00000638144.1:n.286G>A
ENST00000646164.1:c.38+8877G>A
ENST00000249806.9:c.643G>A	ENSP00000249806.5:p.Ala215Thr
ENST00000538696.5:c.739G>A	ENSP00000445770.1:p.Ala247Thr
ENST00000562767.1:c.84-12031G>A	ENSP00000456336.1:n.84-12031G>A
ENST00000563917.1:n.543G>A
ENST00000564752.1:c.*27G>A	ENSP00000457822.1:n.*27G>A
ENST00000565471.5:c.184G>A	ENSP00000457384.1:p.Ala62Thr
ENST00000566347.5:c.454G>A	ENSP00000457783.1:p.Ala152Thr
ENST00000567060.5:c.*41G>A	ENSP00000454818.1:n.*41G>A
NM_017882.2:c.643G>A	NP_060352.1:p.Ala215Thr
XR_931861.1:n.865G>A
NM_017882.3:c.643G>A MANE Select	NP_060352.1:p.Ala215Thr