Canonical Allele Identifier: CA392972803

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68501988C>A (hg19) ; chr15:g.68209650C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209650C>A , CM000677.2:g.68209650C>A	GRCh38
NC_000015.9:g.68501988C>A , CM000677.1:g.68501988C>A	GRCh37
NC_000015.8:g.66289042C>A	NCBI36
NG_008764.2:g.52562G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.652G>T MANE Select	ENSP00000249806.5:p.Gly218Cys
ENST00000562767.2:c.84-12022G>T	ENSP00000456336.1:n.84-12022G>T
ENST00000563917.2:n.494G>T
ENST00000565471.6:c.193G>T	ENSP00000457384.1:p.Gly65Cys
ENST00000635747.1:c.*555G>T	ENSP00000490627.1:n.*555G>T
ENST00000636212.1:c.*322G>T	ENSP00000489851.1:n.*322G>T
ENST00000636674.1:n.1754G>T
ENST00000636964.1:n.2180G>T
ENST00000637054.1:c.198+8886G>T	ENSP00000490807.1:n.198+8886G>T
ENST00000637329.1:c.621G>T
ENST00000637450.1:c.*306G>T	ENSP00000490204.1:n.*306G>T
ENST00000637494.1:c.364G>T	ENSP00000490057.1:p.Gly122Cys
ENST00000637667.1:c.553G>T	ENSP00000489843.1:p.Gly185Cys
ENST00000637823.1:c.477G>T
ENST00000637888.1:c.198+8886G>T	ENSP00000490546.1:n.198+8886G>T
ENST00000638076.1:c.*255G>T	ENSP00000490373.1:n.*255G>T
ENST00000638144.1:n.295G>T
ENST00000646164.1:c.38+8886G>T
ENST00000249806.9:c.652G>T	ENSP00000249806.5:p.Gly218Cys
ENST00000538696.5:c.748G>T	ENSP00000445770.1:p.Gly250Cys
ENST00000562767.1:c.84-12022G>T	ENSP00000456336.1:n.84-12022G>T
ENST00000563917.1:n.552G>T
ENST00000564752.1:c.*36G>T	ENSP00000457822.1:n.*36G>T
ENST00000565471.5:c.193G>T	ENSP00000457384.1:p.Gly65Cys
ENST00000566347.5:c.463G>T	ENSP00000457783.1:p.Gly155Cys
ENST00000567060.5:c.*50G>T	ENSP00000454818.1:n.*50G>T
NM_017882.2:c.652G>T	NP_060352.1:p.Gly218Cys
XR_931861.1:n.874G>T
NM_017882.3:c.652G>T MANE Select	NP_060352.1:p.Gly218Cys