Canonical Allele Identifier: CA7630476

Gene: CLN6

Linked Data

• ClinVar Variation Id: 457976
• ClinVar RCV Id: RCV000559749 ; RCV002497074
• dbSNP Id: rs145746878
• ExAC: 15:68500660 G / A
• gnomAD v2: 15-68500660-G-A
• gnomAD v3: 15-68208322-G-A
• gnomAD v4: 15-68208322-G-A
• MyVariant Identifiers: chr15:g.68500660G>A (hg19) ; chr15:g.68208322G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208322G>A , CM000677.2:g.68208322G>A	GRCh38
NC_000015.9:g.68500660G>A , CM000677.1:g.68500660G>A	GRCh37
NC_000015.8:g.66287714G>A	NCBI36
NG_008764.2:g.53890C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.754C>T MANE Select	ENSP00000249806.5:p.Arg252Cys
ENST00000562767.2:c.84-10694C>T	ENSP00000456336.1:n.84-10694C>T
ENST00000565471.6:c.295C>T	ENSP00000457384.1:p.Arg99Cys
ENST00000635747.1:c.*657C>T	ENSP00000490627.1:n.*657C>T
ENST00000636212.1:c.*424C>T	ENSP00000489851.1:n.*424C>T
ENST00000636674.1:n.1856C>T
ENST00000636964.1:n.2282C>T
ENST00000637054.1:c.198+10214C>T	ENSP00000490807.1:n.198+10214C>T
ENST00000637329.1:c.723C>T
ENST00000637450.1:c.*408C>T	ENSP00000490204.1:n.*408C>T
ENST00000637494.1:c.466C>T	ENSP00000490057.1:p.Arg156Cys
ENST00000637667.1:c.655C>T	ENSP00000489843.1:p.Arg219Cys
ENST00000637823.1:c.579C>T
ENST00000637888.1:c.198+10214C>T	ENSP00000490546.1:n.198+10214C>T
ENST00000638076.1:c.*357C>T	ENSP00000490373.1:n.*357C>T
ENST00000638144.1:n.397C>T
ENST00000646164.1:c.39-8641C>T
ENST00000249806.9:c.754C>T	ENSP00000249806.5:p.Arg252Cys
ENST00000538696.5:c.850C>T	ENSP00000445770.1:p.Arg284Cys
ENST00000562767.1:c.84-10694C>T	ENSP00000456336.1:n.84-10694C>T
ENST00000565471.5:c.295C>T	ENSP00000457384.1:p.Arg99Cys
ENST00000566347.5:c.565C>T	ENSP00000457783.1:p.Arg189Cys
ENST00000567060.5:c.*152C>T	ENSP00000454818.1:n.*152C>T
NM_017882.2:c.754C>T	NP_060352.1:p.Arg252Cys
NM_017882.3:c.754C>T MANE Select	NP_060352.1:p.Arg252Cys