Canonical Allele Identifier: CA392971933

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68500621A>T (hg19) ; chr15:g.68208283A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208283A>T , CM000677.2:g.68208283A>T	GRCh38
NC_000015.9:g.68500621A>T , CM000677.1:g.68500621A>T	GRCh37
NC_000015.8:g.66287675A>T	NCBI36
NG_008764.2:g.53929T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.793T>A MANE Select	ENSP00000249806.5:p.Ser265Thr
ENST00000562767.2:c.84-10655T>A	ENSP00000456336.1:n.84-10655T>A
ENST00000565471.6:c.334T>A	ENSP00000457384.1:p.Ser112Thr
ENST00000635747.1:c.*696T>A	ENSP00000490627.1:n.*696T>A
ENST00000636212.1:c.*463T>A	ENSP00000489851.1:n.*463T>A
ENST00000636674.1:n.1895T>A
ENST00000636964.1:n.2321T>A
ENST00000637054.1:c.198+10253T>A	ENSP00000490807.1:n.198+10253T>A
ENST00000637329.1:c.762T>A
ENST00000637450.1:c.*447T>A	ENSP00000490204.1:n.*447T>A
ENST00000637494.1:c.505T>A	ENSP00000490057.1:p.Ser169Thr
ENST00000637667.1:c.694T>A	ENSP00000489843.1:p.Ser232Thr
ENST00000637823.1:c.618T>A
ENST00000637888.1:c.198+10253T>A	ENSP00000490546.1:n.198+10253T>A
ENST00000638076.1:c.*396T>A	ENSP00000490373.1:n.*396T>A
ENST00000638144.1:n.436T>A
ENST00000646164.1:c.39-8602T>A
ENST00000249806.9:c.793T>A	ENSP00000249806.5:p.Ser265Thr
ENST00000538696.5:c.889T>A	ENSP00000445770.1:p.Ser297Thr
ENST00000562767.1:c.84-10655T>A	ENSP00000456336.1:n.84-10655T>A
ENST00000565471.5:c.334T>A	ENSP00000457384.1:p.Ser112Thr
ENST00000566347.5:c.604T>A	ENSP00000457783.1:p.Ser202Thr
ENST00000567060.5:c.*191T>A	ENSP00000454818.1:n.*191T>A
NM_017882.2:c.793T>A	NP_060352.1:p.Ser265Thr
NM_017882.3:c.793T>A MANE Select	NP_060352.1:p.Ser265Thr