Canonical Allele Identifier: CA392971914

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68500609T>A (hg19) ; chr15:g.68208271T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208271T>A , CM000677.2:g.68208271T>A	GRCh38
NC_000015.9:g.68500609T>A , CM000677.1:g.68500609T>A	GRCh37
NC_000015.8:g.66287663T>A	NCBI36
NG_008764.2:g.53941A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.805A>T MANE Select	ENSP00000249806.5:p.Thr269Ser
ENST00000562767.2:c.84-10643A>T	ENSP00000456336.1:n.84-10643A>T
ENST00000565471.6:c.346A>T	ENSP00000457384.1:p.Thr116Ser
ENST00000635747.1:c.*708A>T	ENSP00000490627.1:n.*708A>T
ENST00000636212.1:c.*475A>T	ENSP00000489851.1:n.*475A>T
ENST00000636674.1:n.1907A>T
ENST00000636964.1:n.2333A>T
ENST00000637054.1:c.198+10265A>T	ENSP00000490807.1:n.198+10265A>T
ENST00000637329.1:c.774A>T
ENST00000637450.1:c.*459A>T	ENSP00000490204.1:n.*459A>T
ENST00000637494.1:c.517A>T	ENSP00000490057.1:p.Thr173Ser
ENST00000637667.1:c.706A>T	ENSP00000489843.1:p.Thr236Ser
ENST00000637823.1:c.630A>T
ENST00000637888.1:c.198+10265A>T	ENSP00000490546.1:n.198+10265A>T
ENST00000638076.1:c.*408A>T	ENSP00000490373.1:n.*408A>T
ENST00000638144.1:n.448A>T
ENST00000646164.1:c.39-8590A>T
ENST00000249806.9:c.805A>T	ENSP00000249806.5:p.Thr269Ser
ENST00000538696.5:c.901A>T	ENSP00000445770.1:p.Thr301Ser
ENST00000562767.1:c.84-10643A>T	ENSP00000456336.1:n.84-10643A>T
ENST00000565471.5:c.346A>T	ENSP00000457384.1:p.Thr116Ser
ENST00000566347.5:c.616A>T	ENSP00000457783.1:p.Thr206Ser
ENST00000567060.5:c.*203A>T	ENSP00000454818.1:n.*203A>T
NM_017882.2:c.805A>T	NP_060352.1:p.Thr269Ser
NM_017882.3:c.805A>T MANE Select	NP_060352.1:p.Thr269Ser