Canonical Allele Identifier: CA272382848

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208353C>A , CM000677.2:g.68208353C>A	GRCh38
NC_000015.9:g.68500691C>A , CM000677.1:g.68500691C>A	GRCh37
NC_000015.8:g.66287745C>A	NCBI36
NG_008764.2:g.53859G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_017882.3:c.723G>T MANE Select	NP_060352.1:p.Met241Ile
ENST00000249806.11:c.723G>T MANE Select	ENSP00000249806.5:p.Met241Ile
NM_017882.2:c.723G>T	NP_060352.1:p.Met241Ile
ENST00000249806.9:c.723G>T	ENSP00000249806.5:p.Met241Ile
ENST00000538696.5:c.819G>T	ENSP00000445770.1:p.Met273Ile
ENST00000562767.1:c.84-10725G>T	ENSP00000456336.1:n.84-10725G>T
ENST00000562767.2:c.84-10725G>T	ENSP00000456336.1:n.84-10725G>T
ENST00000564752.1:c.*107G>T	ENSP00000457822.1:n.*107G>T
ENST00000565471.5:c.264G>T	ENSP00000457384.1:p.Met88Ile
ENST00000565471.6:c.264G>T	ENSP00000457384.1:p.Met88Ile
ENST00000566347.5:c.534G>T	ENSP00000457783.1:p.Met178Ile
ENST00000567060.5:c.*121G>T	ENSP00000454818.1:n.*121G>T
ENST00000635747.1:c.*626G>T	ENSP00000490627.1:n.*626G>T
ENST00000636212.1:c.*393G>T	ENSP00000489851.1:n.*393G>T
ENST00000636674.1:n.1825G>T
ENST00000636964.1:n.2251G>T
ENST00000637054.1:c.198+10183G>T	ENSP00000490807.1:n.198+10183G>T
ENST00000637329.1:c.692G>T
ENST00000637450.1:c.*377G>T	ENSP00000490204.1:n.*377G>T
ENST00000637494.1:c.435G>T	ENSP00000490057.1:p.Met145Ile
ENST00000637667.1:c.624G>T	ENSP00000489843.1:p.Met208Ile
ENST00000637823.1:c.548G>T
ENST00000637888.1:c.198+10183G>T	ENSP00000490546.1:n.198+10183G>T
ENST00000638076.1:c.*326G>T	ENSP00000490373.1:n.*326G>T
ENST00000638144.1:n.366G>T
ENST00000646164.1:c.39-8672G>T