Canonical Allele Identifier: CA7630462

Gene: CLN6

Linked Data

• ClinVar Variation Id: 457977
• ClinVar RCV Id: RCV000543712
• dbSNP Id: rs143728911
• ExAC: 15:68500582 C / T
• gnomAD v2: 15-68500582-C-T
• gnomAD v3: 15-68208244-C-T
• gnomAD v4: 15-68208244-C-T
• MyVariant Identifiers: chr15:g.68500582C>T (hg19) ; chr15:g.68208244C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208244C>T , CM000677.2:g.68208244C>T	GRCh38
NC_000015.9:g.68500582C>T , CM000677.1:g.68500582C>T	GRCh37
NC_000015.8:g.66287636C>T	NCBI36
NG_008764.2:g.53968G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.832G>A MANE Select	ENSP00000249806.5:p.Ala278Thr
ENST00000562767.2:c.84-10616G>A	ENSP00000456336.1:n.84-10616G>A
ENST00000565471.6:c.373G>A	ENSP00000457384.1:p.Ala125Thr
ENST00000635747.1:c.*735G>A	ENSP00000490627.1:n.*735G>A
ENST00000636212.1:c.*502G>A	ENSP00000489851.1:n.*502G>A
ENST00000636674.1:n.1934G>A
ENST00000636964.1:n.2360G>A
ENST00000637054.1:c.198+10292G>A	ENSP00000490807.1:n.198+10292G>A
ENST00000637329.1:c.801G>A
ENST00000637450.1:c.*486G>A	ENSP00000490204.1:n.*486G>A
ENST00000637494.1:c.544G>A	ENSP00000490057.1:p.Ala182Thr
ENST00000637667.1:c.733G>A	ENSP00000489843.1:p.Ala245Thr
ENST00000637823.1:c.657G>A
ENST00000637888.1:c.198+10292G>A	ENSP00000490546.1:n.198+10292G>A
ENST00000638076.1:c.*435G>A	ENSP00000490373.1:n.*435G>A
ENST00000638144.1:n.475G>A
ENST00000646164.1:c.39-8563G>A
ENST00000249806.9:c.832G>A	ENSP00000249806.5:p.Ala278Thr
ENST00000538696.5:c.928G>A	ENSP00000445770.1:p.Ala310Thr
ENST00000562767.1:c.84-10616G>A	ENSP00000456336.1:n.84-10616G>A
ENST00000565471.5:c.373G>A	ENSP00000457384.1:p.Ala125Thr
ENST00000566347.5:c.643G>A	ENSP00000457783.1:p.Ala215Thr
ENST00000567060.5:c.*230G>A	ENSP00000454818.1:n.*230G>A
NM_017882.2:c.832G>A	NP_060352.1:p.Ala278Thr
NM_017882.3:c.832G>A MANE Select	NP_060352.1:p.Ala278Thr