Canonical Allele Identifier: CA715166970

Gene: CLN6

Linked Data

• dbSNP Id: rs1396612382
• gnomAD v3: 15-68207891-A-G
• gnomAD v4: 15-68207891-A-G
• MyVariant Identifiers: chr15:g.68500229A>G (hg19) ; chr15:g.68207891A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68207891A>G , CM000677.2:g.68207891A>G	GRCh38
NC_000015.9:g.68500229A>G , CM000677.1:g.68500229A>G	GRCh37
NC_000015.8:g.66287283A>G	NCBI36
NG_008764.2:g.54321T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.*249T>C MANE Select	ENSP00000249806.5:n.*249T>C
ENST00000562767.2:c.84-10263T>C	ENSP00000456336.1:n.84-10263T>C
ENST00000565471.6:c.*249T>C	ENSP00000457384.1:n.*249T>C
ENST00000636964.1:n.2713T>C
ENST00000637054.1:c.199-10263T>C	ENSP00000490807.1:n.199-10263T>C
ENST00000637329.1:c.1154T>C
ENST00000637888.1:c.199-10263T>C	ENSP00000490546.1:n.199-10263T>C
ENST00000638076.1:c.*788T>C	ENSP00000490373.1:n.*788T>C
ENST00000646164.1:c.39-8210T>C
ENST00000249806.9:c.*249T>C	ENSP00000249806.5:n.*249T>C
ENST00000562767.1:c.84-10263T>C	ENSP00000456336.1:n.84-10263T>C
ENST00000565471.5:c.*249T>C	ENSP00000457384.1:n.*249T>C
NM_017882.2:c.*249T>C	NP_060352.1:n.*249T>C
NM_017882.3:c.*249T>C MANE Select	NP_060352.1:n.*249T>C