Canonical Allele Identifier: CA10647351

Gene: CLN6

Linked Data

• ClinVar Variation Id: 316983
• ClinVar RCV Id: RCV000281114
• dbSNP Id: rs886051444
• gnomAD v3: 15-68207965-G-A
• gnomAD v4: 15-68207965-G-A
• MyVariant Identifiers: chr15:g.68500303G>A (hg19) ; chr15:g.68207965G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68207965G>A , CM000677.2:g.68207965G>A	GRCh38
NC_000015.9:g.68500303G>A , CM000677.1:g.68500303G>A	GRCh37
NC_000015.8:g.66287357G>A	NCBI36
NG_008764.2:g.54247C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.*175C>T MANE Select	ENSP00000249806.5:n.*175C>T
ENST00000562767.2:c.84-10337C>T	ENSP00000456336.1:n.84-10337C>T
ENST00000565471.6:c.*175C>T	ENSP00000457384.1:n.*175C>T
ENST00000636964.1:n.2639C>T
ENST00000637054.1:c.199-10337C>T	ENSP00000490807.1:n.199-10337C>T
ENST00000637329.1:c.1080C>T
ENST00000637888.1:c.199-10337C>T	ENSP00000490546.1:n.199-10337C>T
ENST00000638076.1:c.*714C>T	ENSP00000490373.1:n.*714C>T
ENST00000646164.1:c.39-8284C>T
ENST00000249806.9:c.*175C>T	ENSP00000249806.5:n.*175C>T
ENST00000562767.1:c.84-10337C>T	ENSP00000456336.1:n.84-10337C>T
ENST00000565471.5:c.*175C>T	ENSP00000457384.1:n.*175C>T
ENST00000567060.5:c.*509C>T	ENSP00000454818.1:n.*509C>T
NM_017882.2:c.*175C>T	NP_060352.1:n.*175C>T
NM_017882.3:c.*175C>T MANE Select	NP_060352.1:n.*175C>T