Canonical Allele Identifier: CA392973511

Gene: CLN6

Linked Data

• gnomAD v4: 15-68211772-C-T
• MyVariant Identifiers: chr15:g.68504110C>T (hg19) ; chr15:g.68211772C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211772C>T , CM000677.2:g.68211772C>T	GRCh38
NC_000015.9:g.68504110C>T , CM000677.1:g.68504110C>T	GRCh37
NC_000015.8:g.66291164C>T	NCBI36
NG_008764.2:g.50440G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.389G>A MANE Select	ENSP00000249806.5:p.Gly130Asp
ENST00000562767.2:c.84-14144G>A	ENSP00000456336.1:n.84-14144G>A
ENST00000563917.2:n.231G>A
ENST00000565471.6:c.84-2013G>A	ENSP00000457384.1:n.84-2013G>A
ENST00000635747.1:c.*292G>A	ENSP00000490627.1:n.*292G>A
ENST00000636212.1:c.298-31G>A	ENSP00000489851.1:n.298-31G>A
ENST00000636314.1:c.183-454G>A	ENSP00000490295.1:n.183-454G>A
ENST00000636674.1:n.1372G>A
ENST00000636964.1:n.1561G>A
ENST00000637054.1:c.198+6764G>A	ENSP00000490807.1:n.198+6764G>A
ENST00000637223.1:c.*201-454G>A	ENSP00000490010.1:n.*201-454G>A
ENST00000637329.1:c.358G>A
ENST00000637450.1:c.*43G>A	ENSP00000490204.1:n.*43G>A
ENST00000637494.1:c.199-454G>A	ENSP00000490057.1:n.199-454G>A
ENST00000637667.1:c.290G>A	ENSP00000489843.1:p.Gly97Asp
ENST00000637823.1:c.224-129G>A
ENST00000637888.1:c.198+6764G>A	ENSP00000490546.1:n.198+6764G>A
ENST00000638076.1:c.389G>A	ENSP00000490373.1:p.Gly130Asp
ENST00000638144.1:n.130-454G>A
ENST00000646164.1:c.38+6764G>A
ENST00000249806.9:c.389G>A	ENSP00000249806.5:p.Gly130Asp
ENST00000538696.5:c.485G>A	ENSP00000445770.1:p.Gly162Asp
ENST00000562767.1:c.84-14144G>A	ENSP00000456336.1:n.84-14144G>A
ENST00000563917.1:n.170G>A
ENST00000564752.1:c.389G>A	ENSP00000457822.1:p.Gly130Asp
ENST00000565471.5:c.84-2013G>A	ENSP00000457384.1:n.84-2013G>A
ENST00000566347.5:c.298-454G>A	ENSP00000457783.1:n.298-454G>A
ENST00000567060.5:c.298-2052G>A	ENSP00000454818.1:n.298-2052G>A
NM_017882.2:c.389G>A	NP_060352.1:p.Gly130Asp
XR_931861.1:n.492G>A
NM_017882.3:c.389G>A MANE Select	NP_060352.1:p.Gly130Asp