Canonical Allele Identifier: CA392975497
Gene: CLN6 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.68218540G>T , CM000677.2:g.68218540G>T GRCh38
NC_000015.9:g.68510878G>T , CM000677.1:g.68510878G>T GRCh37
NC_000015.8:g.66297932G>T NCBI36
NG_008764.2:g.43672C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000249806.11:c.194C>A MANE Select ENSP00000249806.5:p.Ala65Asp
ENST00000562767.2:c.83+10962C>A ENSP00000456336.1:n.83+10962C>A
ENST00000563917.2:n.41-4152C>A
ENST00000565471.6:c.84-8781C>A ENSP00000457384.1:n.84-8781C>A
ENST00000569336.2:n.103C>A
ENST00000635747.1:c.*97C>A ENSP00000490627.1:n.*97C>A
ENST00000636020.1:n.326C>A
ENST00000636212.1:c.194C>A ENSP00000489851.1:p.Ala65Asp
ENST00000636314.1:c.84-4152C>A ENSP00000490295.1:n.84-4152C>A
ENST00000637054.1:c.194C>A ENSP00000490807.1:p.Ala65Asp
ENST00000637223.1:c.*97C>A ENSP00000490010.1:n.*97C>A
ENST00000637329.1:c.105C>A
ENST00000637450.1:c.84-4152C>A ENSP00000490204.1:n.84-4152C>A
ENST00000637494.1:c.194C>A ENSP00000490057.1:p.Ala65Asp
ENST00000637667.1:c.194C>A ENSP00000489843.1:p.Ala65Asp
ENST00000637823.1:c.120C>A
ENST00000637888.1:c.194C>A ENSP00000490546.1:p.Ala65Asp
ENST00000638076.1:c.194C>A ENSP00000490373.1:p.Ala65Asp
ENST00000638144.1:n.31-4152C>A
ENST00000646164.1:c.34C>A
ENST00000249806.9:c.194C>A ENSP00000249806.5:p.Ala65Asp
ENST00000538696.5:c.290C>A ENSP00000445770.1:p.Ala97Asp
ENST00000562767.1:c.83+10962C>A ENSP00000456336.1:n.83+10962C>A
ENST00000564752.1:c.194C>A ENSP00000457822.1:p.Ala65Asp
ENST00000564846.1:n.626C>A
ENST00000565471.5:c.84-8781C>A ENSP00000457384.1:n.84-8781C>A
ENST00000566347.5:c.194C>A ENSP00000457783.1:p.Ala65Asp
ENST00000567060.5:c.194C>A ENSP00000454818.1:p.Ala65Asp
ENST00000569336.1:n.280C>A
NM_017882.2:c.194C>A NP_060352.1:p.Ala65Asp
XR_931861.1:n.297C>A
NM_017882.3:c.194C>A MANE Select NP_060352.1:p.Ala65Asp