Canonical Allele Identifier: CA10636473

Gene: CLN6

Linked Data

• ClinVar Variation Id: 316975
• ClinVar RCV Id: RCV000328252
• dbSNP Id: rs886051437
• gnomAD v3: 15-68207608-A-T
• gnomAD v4: 15-68207608-A-T
• MyVariant Identifiers: chr15:g.68499946A>T (hg19) ; chr15:g.68207608A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68207608A>T , CM000677.2:g.68207608A>T	GRCh38
NC_000015.9:g.68499946A>T , CM000677.1:g.68499946A>T	GRCh37
NC_000015.8:g.66287000A>T	NCBI36
NG_008764.2:g.54604T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.*532T>A MANE Select	ENSP00000249806.5:n.*532T>A
ENST00000562767.2:c.84-9980T>A	ENSP00000456336.1:n.84-9980T>A
ENST00000636964.1:n.2996T>A
ENST00000637054.1:c.199-9980T>A	ENSP00000490807.1:n.199-9980T>A
ENST00000637888.1:c.199-9980T>A	ENSP00000490546.1:n.199-9980T>A
ENST00000638026.1:n.73T>A
ENST00000638076.1:c.*1071T>A	ENSP00000490373.1:n.*1071T>A
ENST00000646164.1:c.39-7927T>A
ENST00000249806.9:c.*532T>A	ENSP00000249806.5:n.*532T>A
ENST00000562767.1:c.84-9980T>A	ENSP00000456336.1:n.84-9980T>A
NM_017882.2:c.*532T>A	NP_060352.1:n.*532T>A
NM_017882.3:c.*532T>A MANE Select	NP_060352.1:n.*532T>A