Canonical Allele Identifier: CA971077948

Gene: CLN6

Linked Data

• dbSNP Id: rs2093190623
• gnomAD v3: 15-68207620-T-C
• gnomAD v4: 15-68207620-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68207620T>C , CM000677.2:g.68207620T>C	GRCh38
NC_000015.9:g.68499958T>C , CM000677.1:g.68499958T>C	GRCh37
NC_000015.8:g.66287012T>C	NCBI36
NG_008764.2:g.54592A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.*520A>G MANE Select	ENSP00000249806.5:n.*520A>G
ENST00000562767.2:c.84-9992A>G	ENSP00000456336.1:n.84-9992A>G
ENST00000636964.1:n.2984A>G
ENST00000637054.1:c.199-9992A>G	ENSP00000490807.1:n.199-9992A>G
ENST00000637888.1:c.199-9992A>G	ENSP00000490546.1:n.199-9992A>G
ENST00000638026.1:n.61A>G
ENST00000638076.1:c.*1059A>G	ENSP00000490373.1:n.*1059A>G
ENST00000646164.1:c.39-7939A>G
ENST00000249806.9:c.*520A>G	ENSP00000249806.5:n.*520A>G
ENST00000562767.1:c.84-9992A>G	ENSP00000456336.1:n.84-9992A>G
NM_017882.2:c.*520A>G	NP_060352.1:n.*520A>G
NM_017882.3:c.*520A>G MANE Select	NP_060352.1:n.*520A>G