Canonical Allele Identifier: CA491099995

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208313G>A , CM000677.2:g.68208313G>A	GRCh38
NC_000015.9:g.68500651G>A , CM000677.1:g.68500651G>A	GRCh37
NC_000015.8:g.66287705G>A	NCBI36
NG_008764.2:g.53899C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_017882.3:c.763C>T MANE Select	NP_060352.1:p.Leu255=
ENST00000249806.11:c.763C>T MANE Select	ENSP00000249806.5:p.Leu255=
NM_017882.2:c.763C>T	NP_060352.1:p.Leu255=
ENST00000249806.9:c.763C>T	ENSP00000249806.5:p.Leu255=
ENST00000538696.5:c.859C>T	ENSP00000445770.1:p.Leu287=
ENST00000562767.1:c.84-10685C>T	ENSP00000456336.1:n.84-10685C>T
ENST00000562767.2:c.84-10685C>T	ENSP00000456336.1:n.84-10685C>T
ENST00000565471.5:c.304C>T	ENSP00000457384.1:p.Leu102=
ENST00000565471.6:c.304C>T	ENSP00000457384.1:p.Leu102=
ENST00000566347.5:c.574C>T	ENSP00000457783.1:p.Leu192=
ENST00000567060.5:c.*161C>T	ENSP00000454818.1:n.*161C>T
ENST00000635747.1:c.*666C>T	ENSP00000490627.1:n.*666C>T
ENST00000636212.1:c.*433C>T	ENSP00000489851.1:n.*433C>T
ENST00000636674.1:n.1865C>T
ENST00000636964.1:n.2291C>T
ENST00000637054.1:c.198+10223C>T	ENSP00000490807.1:n.198+10223C>T
ENST00000637329.1:c.732C>T
ENST00000637450.1:c.*417C>T	ENSP00000490204.1:n.*417C>T
ENST00000637494.1:c.475C>T	ENSP00000490057.1:p.Leu159=
ENST00000637667.1:c.664C>T	ENSP00000489843.1:p.Leu222=
ENST00000637823.1:c.588C>T
ENST00000637888.1:c.198+10223C>T	ENSP00000490546.1:n.198+10223C>T
ENST00000638076.1:c.*366C>T	ENSP00000490373.1:n.*366C>T
ENST00000638144.1:n.406C>T
ENST00000646164.1:c.39-8632C>T