Canonical Allele Identifier: CA971078174

Gene: CLN6

Linked Data

• dbSNP Id: rs2093192667
• gnomAD v3: 15-68208054-C-T
• gnomAD v4: 15-68208054-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208054C>T , CM000677.2:g.68208054C>T	GRCh38
NC_000015.9:g.68500392C>T , CM000677.1:g.68500392C>T	GRCh37
NC_000015.8:g.66287446C>T	NCBI36
NG_008764.2:g.54158G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.*86G>A MANE Select	ENSP00000249806.5:n.*86G>A
ENST00000562767.2:c.84-10426G>A	ENSP00000456336.1:n.84-10426G>A
ENST00000565471.6:c.*86G>A	ENSP00000457384.1:n.*86G>A
ENST00000636964.1:n.2550G>A
ENST00000637054.1:c.199-10426G>A	ENSP00000490807.1:n.199-10426G>A
ENST00000637329.1:c.991G>A
ENST00000637888.1:c.199-10426G>A	ENSP00000490546.1:n.199-10426G>A
ENST00000638076.1:c.*625G>A	ENSP00000490373.1:n.*625G>A
ENST00000646164.1:c.39-8373G>A
ENST00000249806.9:c.*86G>A	ENSP00000249806.5:n.*86G>A
ENST00000562767.1:c.84-10426G>A	ENSP00000456336.1:n.84-10426G>A
ENST00000565471.5:c.*86G>A	ENSP00000457384.1:n.*86G>A
ENST00000566347.5:c.*86G>A	ENSP00000457783.1:n.*86G>A
ENST00000567060.5:c.*420G>A	ENSP00000454818.1:n.*420G>A
NM_017882.2:c.*86G>A	NP_060352.1:n.*86G>A
NM_017882.3:c.*86G>A MANE Select	NP_060352.1:n.*86G>A