Canonical Allele Identifier: CA313957

Gene: CLN6

Linked Data

• ClinVar Variation Id: 205163
• ClinVar RCV Id: RCV000187091 ; RCV000691595
• dbSNP Id: rs796052350
• gnomAD v2: 15-68506640-A-T
• gnomAD v3: 15-68214302-A-T
• gnomAD v4: 15-68214302-A-T
• MyVariant Identifiers: chr15:g.68506640A>T (hg19) ; chr15:g.68214302A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68214302A>T , CM000677.2:g.68214302A>T	GRCh38
NC_000015.9:g.68506640A>T , CM000677.1:g.68506640A>T	GRCh37
NC_000015.8:g.66293694A>T	NCBI36
NG_008764.2:g.47910T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.285T>A MANE Select	ENSP00000249806.5:p.Phe95Leu
ENST00000562767.2:c.83+15200T>A	ENSP00000456336.1:n.83+15200T>A
ENST00000563917.2:n.127T>A
ENST00000565471.6:c.84-4543T>A	ENSP00000457384.1:n.84-4543T>A
ENST00000635747.1:c.*188T>A	ENSP00000490627.1:n.*188T>A
ENST00000635754.1:n.1307T>A
ENST00000636020.1:n.417T>A
ENST00000636212.1:c.285T>A	ENSP00000489851.1:p.Phe95Leu
ENST00000636314.1:c.170T>A	ENSP00000490295.1:p.Phe57Tyr
ENST00000637054.1:c.198+4234T>A	ENSP00000490807.1:n.198+4234T>A
ENST00000637223.1:c.*188T>A	ENSP00000490010.1:n.*188T>A
ENST00000637329.1:c.196T>A
ENST00000637450.1:c.170T>A	ENSP00000490204.1:p.Phe57Tyr
ENST00000637494.1:c.199-2984T>A	ENSP00000490057.1:n.199-2984T>A
ENST00000637667.1:c.199-2439T>A	ENSP00000489843.1:n.199-2439T>A
ENST00000637823.1:c.211T>A
ENST00000637888.1:c.198+4234T>A	ENSP00000490546.1:n.198+4234T>A
ENST00000638076.1:c.285T>A	ENSP00000490373.1:p.Phe95Leu
ENST00000638144.1:n.117T>A
ENST00000646164.1:c.38+4234T>A
ENST00000249806.9:c.285T>A	ENSP00000249806.5:p.Phe95Leu
ENST00000538696.5:c.381T>A	ENSP00000445770.1:p.Phe127Leu
ENST00000562767.1:c.83+15200T>A	ENSP00000456336.1:n.83+15200T>A
ENST00000563917.1:n.66T>A
ENST00000564752.1:c.285T>A	ENSP00000457822.1:p.Phe95Leu
ENST00000564846.1:n.717T>A
ENST00000565471.5:c.84-4543T>A	ENSP00000457384.1:n.84-4543T>A
ENST00000566347.5:c.285T>A	ENSP00000457783.1:p.Phe95Leu
ENST00000567060.5:c.285T>A	ENSP00000454818.1:p.Phe95Leu
NM_017882.2:c.285T>A	NP_060352.1:p.Phe95Leu
XR_931861.1:n.388T>A
NM_017882.3:c.285T>A MANE Select	NP_060352.1:p.Phe95Leu