Canonical Allele Identifier: CA7630448

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208180G>A , CM000677.2:g.68208180G>A	GRCh38
NC_000015.9:g.68500518G>A , CM000677.1:g.68500518G>A	GRCh37
NC_000015.8:g.66287572G>A	NCBI36
NG_008764.2:g.54032C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_017882.3:c.896C>T MANE Select	NP_060352.1:p.Pro299Leu
ENST00000249806.11:c.896C>T MANE Select	ENSP00000249806.5:p.Pro299Leu
NM_017882.2:c.896C>T	NP_060352.1:p.Pro299Leu
ENST00000249806.9:c.896C>T	ENSP00000249806.5:p.Pro299Leu
ENST00000538696.5:c.992C>T	ENSP00000445770.1:p.Pro331Leu
ENST00000562767.1:c.84-10552C>T	ENSP00000456336.1:n.84-10552C>T
ENST00000562767.2:c.84-10552C>T	ENSP00000456336.1:n.84-10552C>T
ENST00000565471.5:c.437C>T	ENSP00000457384.1:p.Pro146Leu
ENST00000565471.6:c.437C>T	ENSP00000457384.1:p.Pro146Leu
ENST00000566347.5:c.707C>T	ENSP00000457783.1:p.Pro236Leu
ENST00000567060.5:c.*294C>T	ENSP00000454818.1:n.*294C>T
ENST00000635747.1:c.*799C>T	ENSP00000490627.1:n.*799C>T
ENST00000636212.1:c.*566C>T	ENSP00000489851.1:n.*566C>T
ENST00000636674.1:n.1998C>T
ENST00000636964.1:n.2424C>T
ENST00000637054.1:c.198+10356C>T	ENSP00000490807.1:n.198+10356C>T
ENST00000637329.1:c.865C>T
ENST00000637494.1:c.608C>T	ENSP00000490057.1:p.Pro203Leu
ENST00000637888.1:c.198+10356C>T	ENSP00000490546.1:n.198+10356C>T
ENST00000638076.1:c.*499C>T	ENSP00000490373.1:n.*499C>T
ENST00000638144.1:n.539C>T
ENST00000646164.1:c.39-8499C>T