Canonical Allele Identifier: CA7630505

Gene: CLN6

Linked Data

• dbSNP Id: rs370531973
• ExAC: 15:68500796 C / T
• gnomAD v2: 15-68500796-C-T
• gnomAD v3: 15-68208458-C-T
• gnomAD v4: 15-68208458-C-T
• MyVariant Identifiers: chr15:g.68500796C>T (hg19) ; chr15:g.68208458C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208458C>T , CM000677.2:g.68208458C>T	GRCh38
NC_000015.9:g.68500796C>T , CM000677.1:g.68500796C>T	GRCh37
NC_000015.8:g.66287850C>T	NCBI36
NG_008764.2:g.53754G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.666-48G>A MANE Select	ENSP00000249806.5:n.666-48G>A
ENST00000562767.2:c.84-10830G>A	ENSP00000456336.1:n.84-10830G>A
ENST00000563917.2:n.508-48G>A
ENST00000565471.6:c.207-48G>A	ENSP00000457384.1:n.207-48G>A
ENST00000635747.1:c.*569-48G>A	ENSP00000490627.1:n.*569-48G>A
ENST00000636212.1:c.*336-48G>A	ENSP00000489851.1:n.*336-48G>A
ENST00000636674.1:n.1768-48G>A
ENST00000636964.1:n.2194-48G>A
ENST00000637054.1:c.198+10078G>A	ENSP00000490807.1:n.198+10078G>A
ENST00000637329.1:c.635-48G>A
ENST00000637450.1:c.*320-48G>A	ENSP00000490204.1:n.*320-48G>A
ENST00000637494.1:c.378-48G>A	ENSP00000490057.1:n.378-48G>A
ENST00000637667.1:c.567-48G>A	ENSP00000489843.1:n.567-48G>A
ENST00000637823.1:c.491-48G>A
ENST00000637888.1:c.198+10078G>A	ENSP00000490546.1:n.198+10078G>A
ENST00000638076.1:c.*269-48G>A	ENSP00000490373.1:n.*269-48G>A
ENST00000638144.1:n.309-48G>A
ENST00000646164.1:c.39-8777G>A
ENST00000249806.9:c.666-48G>A	ENSP00000249806.5:n.666-48G>A
ENST00000538696.5:c.762-48G>A	ENSP00000445770.1:n.762-48G>A
ENST00000562767.1:c.84-10830G>A	ENSP00000456336.1:n.84-10830G>A
ENST00000564752.1:c.*50-48G>A	ENSP00000457822.1:n.*50-48G>A
ENST00000565471.5:c.207-48G>A	ENSP00000457384.1:n.207-48G>A
ENST00000566347.5:c.477-48G>A	ENSP00000457783.1:n.477-48G>A
ENST00000567060.5:c.*64-48G>A	ENSP00000454818.1:n.*64-48G>A
NM_017882.2:c.666-48G>A	NP_060352.1:n.666-48G>A
XR_931861.1:n.888-48G>A
NM_017882.3:c.666-48G>A MANE Select	NP_060352.1:n.666-48G>A