Canonical Allele Identifier: CA272382753

Gene: CLN6

Linked Data

• ClinVar Variation Id: 758542
• ClinVar RCV Id: RCV000936274
• dbSNP Id: rs901756486
• gnomAD v3: 15-68208275-T-C
• gnomAD v4: 15-68208275-T-C
• MyVariant Identifiers: chr15:g.68500613T>C (hg19) ; chr15:g.68208275T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208275T>C , CM000677.2:g.68208275T>C	GRCh38
NC_000015.9:g.68500613T>C , CM000677.1:g.68500613T>C	GRCh37
NC_000015.8:g.66287667T>C	NCBI36
NG_008764.2:g.53937A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.801A>G MANE Select	ENSP00000249806.5:p.Ala267=
ENST00000562767.2:c.84-10647A>G	ENSP00000456336.1:n.84-10647A>G
ENST00000565471.6:c.342A>G	ENSP00000457384.1:p.Ala114=
ENST00000635747.1:c.*704A>G	ENSP00000490627.1:n.*704A>G
ENST00000636212.1:c.*471A>G	ENSP00000489851.1:n.*471A>G
ENST00000636674.1:n.1903A>G
ENST00000636964.1:n.2329A>G
ENST00000637054.1:c.198+10261A>G	ENSP00000490807.1:n.198+10261A>G
ENST00000637329.1:c.770A>G
ENST00000637450.1:c.*455A>G	ENSP00000490204.1:n.*455A>G
ENST00000637494.1:c.513A>G	ENSP00000490057.1:p.Ala171=
ENST00000637667.1:c.702A>G	ENSP00000489843.1:p.Ala234=
ENST00000637823.1:c.626A>G
ENST00000637888.1:c.198+10261A>G	ENSP00000490546.1:n.198+10261A>G
ENST00000638076.1:c.*404A>G	ENSP00000490373.1:n.*404A>G
ENST00000638144.1:n.444A>G
ENST00000646164.1:c.39-8594A>G
ENST00000249806.9:c.801A>G	ENSP00000249806.5:p.Ala267=
ENST00000538696.5:c.897A>G	ENSP00000445770.1:p.Ala299=
ENST00000562767.1:c.84-10647A>G	ENSP00000456336.1:n.84-10647A>G
ENST00000565471.5:c.342A>G	ENSP00000457384.1:p.Ala114=
ENST00000566347.5:c.612A>G	ENSP00000457783.1:p.Ala204=
ENST00000567060.5:c.*199A>G	ENSP00000454818.1:n.*199A>G
NM_017882.2:c.801A>G	NP_060352.1:p.Ala267=
NM_017882.3:c.801A>G MANE Select	NP_060352.1:p.Ala267=