Canonical Allele Identifier: CA392972096

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68500680A>T (hg19) ; chr15:g.68208342A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208342A>T , CM000677.2:g.68208342A>T	GRCh38
NC_000015.9:g.68500680A>T , CM000677.1:g.68500680A>T	GRCh37
NC_000015.8:g.66287734A>T	NCBI36
NG_008764.2:g.53870T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.734T>A MANE Select	ENSP00000249806.5:p.Val245Asp
ENST00000562767.2:c.84-10714T>A	ENSP00000456336.1:n.84-10714T>A
ENST00000565471.6:c.275T>A	ENSP00000457384.1:p.Val92Asp
ENST00000635747.1:c.*637T>A	ENSP00000490627.1:n.*637T>A
ENST00000636212.1:c.*404T>A	ENSP00000489851.1:n.*404T>A
ENST00000636674.1:n.1836T>A
ENST00000636964.1:n.2262T>A
ENST00000637054.1:c.198+10194T>A	ENSP00000490807.1:n.198+10194T>A
ENST00000637329.1:c.703T>A
ENST00000637450.1:c.*388T>A	ENSP00000490204.1:n.*388T>A
ENST00000637494.1:c.446T>A	ENSP00000490057.1:p.Val149Asp
ENST00000637667.1:c.635T>A	ENSP00000489843.1:p.Val212Asp
ENST00000637823.1:c.559T>A
ENST00000637888.1:c.198+10194T>A	ENSP00000490546.1:n.198+10194T>A
ENST00000638076.1:c.*337T>A	ENSP00000490373.1:n.*337T>A
ENST00000638144.1:n.377T>A
ENST00000646164.1:c.39-8661T>A
ENST00000249806.9:c.734T>A	ENSP00000249806.5:p.Val245Asp
ENST00000538696.5:c.830T>A	ENSP00000445770.1:p.Val277Asp
ENST00000562767.1:c.84-10714T>A	ENSP00000456336.1:n.84-10714T>A
ENST00000564752.1:c.*118T>A	ENSP00000457822.1:n.*118T>A
ENST00000565471.5:c.275T>A	ENSP00000457384.1:p.Val92Asp
ENST00000566347.5:c.545T>A	ENSP00000457783.1:p.Val182Asp
ENST00000567060.5:c.*132T>A	ENSP00000454818.1:n.*132T>A
NM_017882.2:c.734T>A	NP_060352.1:p.Val245Asp
NM_017882.3:c.734T>A MANE Select	NP_060352.1:p.Val245Asp