Canonical Allele Identifier: CA392972161

Gene: CLN6

Linked Data

• dbSNP Id: rs779105796
• gnomAD v3: 15-68208358-C-A
• gnomAD v4: 15-68208358-C-A
• MyVariant Identifiers: chr15:g.68500696C>A (hg19) ; chr15:g.68208358C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208358C>A , CM000677.2:g.68208358C>A	GRCh38
NC_000015.9:g.68500696C>A , CM000677.1:g.68500696C>A	GRCh37
NC_000015.8:g.66287750C>A	NCBI36
NG_008764.2:g.53854G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.718G>T MANE Select	ENSP00000249806.5:p.Ala240Ser
ENST00000562767.2:c.84-10730G>T	ENSP00000456336.1:n.84-10730G>T
ENST00000565471.6:c.259G>T	ENSP00000457384.1:p.Ala87Ser
ENST00000635747.1:c.*621G>T	ENSP00000490627.1:n.*621G>T
ENST00000636212.1:c.*388G>T	ENSP00000489851.1:n.*388G>T
ENST00000636674.1:n.1820G>T
ENST00000636964.1:n.2246G>T
ENST00000637054.1:c.198+10178G>T	ENSP00000490807.1:n.198+10178G>T
ENST00000637329.1:c.687G>T
ENST00000637450.1:c.*372G>T	ENSP00000490204.1:n.*372G>T
ENST00000637494.1:c.430G>T	ENSP00000490057.1:p.Ala144Ser
ENST00000637667.1:c.619G>T	ENSP00000489843.1:p.Ala207Ser
ENST00000637823.1:c.543G>T
ENST00000637888.1:c.198+10178G>T	ENSP00000490546.1:n.198+10178G>T
ENST00000638076.1:c.*321G>T	ENSP00000490373.1:n.*321G>T
ENST00000638144.1:n.361G>T
ENST00000646164.1:c.39-8677G>T
ENST00000249806.9:c.718G>T	ENSP00000249806.5:p.Ala240Ser
ENST00000538696.5:c.814G>T	ENSP00000445770.1:p.Ala272Ser
ENST00000562767.1:c.84-10730G>T	ENSP00000456336.1:n.84-10730G>T
ENST00000564752.1:c.*102G>T	ENSP00000457822.1:n.*102G>T
ENST00000565471.5:c.259G>T	ENSP00000457384.1:p.Ala87Ser
ENST00000566347.5:c.529G>T	ENSP00000457783.1:p.Ala177Ser
ENST00000567060.5:c.*116G>T	ENSP00000454818.1:n.*116G>T
NM_017882.2:c.718G>T	NP_060352.1:p.Ala240Ser
NM_017882.3:c.718G>T MANE Select	NP_060352.1:p.Ala240Ser