Canonical Allele Identifier: CA7630472

Gene: CLN6

Linked Data

• dbSNP Id: rs779052964
• ExAC: 15:68500622 G / A
• gnomAD v2: 15-68500622-G-A
• gnomAD v4: 15-68208284-G-A
• MyVariant Identifiers: chr15:g.68500622G>A (hg19) ; chr15:g.68208284G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208284G>A , CM000677.2:g.68208284G>A	GRCh38
NC_000015.9:g.68500622G>A , CM000677.1:g.68500622G>A	GRCh37
NC_000015.8:g.66287676G>A	NCBI36
NG_008764.2:g.53928C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.792C>T MANE Select	ENSP00000249806.5:p.Ser264=
ENST00000562767.2:c.84-10656C>T	ENSP00000456336.1:n.84-10656C>T
ENST00000565471.6:c.333C>T	ENSP00000457384.1:p.Ser111=
ENST00000635747.1:c.*695C>T	ENSP00000490627.1:n.*695C>T
ENST00000636212.1:c.*462C>T	ENSP00000489851.1:n.*462C>T
ENST00000636674.1:n.1894C>T
ENST00000636964.1:n.2320C>T
ENST00000637054.1:c.198+10252C>T	ENSP00000490807.1:n.198+10252C>T
ENST00000637329.1:c.761C>T
ENST00000637450.1:c.*446C>T	ENSP00000490204.1:n.*446C>T
ENST00000637494.1:c.504C>T	ENSP00000490057.1:p.Ser168=
ENST00000637667.1:c.693C>T	ENSP00000489843.1:p.Ser231=
ENST00000637823.1:c.617C>T
ENST00000637888.1:c.198+10252C>T	ENSP00000490546.1:n.198+10252C>T
ENST00000638076.1:c.*395C>T	ENSP00000490373.1:n.*395C>T
ENST00000638144.1:n.435C>T
ENST00000646164.1:c.39-8603C>T
ENST00000249806.9:c.792C>T	ENSP00000249806.5:p.Ser264=
ENST00000538696.5:c.888C>T	ENSP00000445770.1:p.Ser296=
ENST00000562767.1:c.84-10656C>T	ENSP00000456336.1:n.84-10656C>T
ENST00000565471.5:c.333C>T	ENSP00000457384.1:p.Ser111=
ENST00000566347.5:c.603C>T	ENSP00000457783.1:p.Ser201=
ENST00000567060.5:c.*190C>T	ENSP00000454818.1:n.*190C>T
NM_017882.2:c.792C>T	NP_060352.1:p.Ser264=
NM_017882.3:c.792C>T MANE Select	NP_060352.1:p.Ser264=