Canonical Allele Identifier: CA392973154

Gene: CLN6

Linked Data

• gnomAD v4: 15-68211288-C-A
• MyVariant Identifiers: chr15:g.68503626C>A (hg19) ; chr15:g.68211288C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211288C>A , CM000677.2:g.68211288C>A	GRCh38
NC_000015.9:g.68503626C>A , CM000677.1:g.68503626C>A	GRCh37
NC_000015.8:g.66290680C>A	NCBI36
NG_008764.2:g.50924G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.517G>T MANE Select	ENSP00000249806.5:p.Asp173Tyr
ENST00000562767.2:c.84-13660G>T	ENSP00000456336.1:n.84-13660G>T
ENST00000563917.2:n.359G>T
ENST00000565471.6:c.84-1529G>T	ENSP00000457384.1:n.84-1529G>T
ENST00000635747.1:c.*420G>T	ENSP00000490627.1:n.*420G>T
ENST00000636212.1:c.*187G>T	ENSP00000489851.1:n.*187G>T
ENST00000636314.1:c.213G>T	ENSP00000490295.1:p.Met71Ile
ENST00000636674.1:n.1619G>T
ENST00000636964.1:n.2045G>T
ENST00000637054.1:c.198+7248G>T	ENSP00000490807.1:n.198+7248G>T
ENST00000637223.1:c.*231G>T	ENSP00000490010.1:n.*231G>T
ENST00000637329.1:c.486G>T
ENST00000637450.1:c.*171G>T	ENSP00000490204.1:n.*171G>T
ENST00000637494.1:c.229G>T	ENSP00000490057.1:p.Asp77Tyr
ENST00000637667.1:c.418G>T	ENSP00000489843.1:p.Asp140Tyr
ENST00000637823.1:c.342G>T
ENST00000637888.1:c.198+7248G>T	ENSP00000490546.1:n.198+7248G>T
ENST00000638076.1:c.*120G>T	ENSP00000490373.1:n.*120G>T
ENST00000638144.1:n.160G>T
ENST00000646164.1:c.38+7248G>T
ENST00000249806.9:c.517G>T	ENSP00000249806.5:p.Asp173Tyr
ENST00000538696.5:c.613G>T	ENSP00000445770.1:p.Asp205Tyr
ENST00000562767.1:c.84-13660G>T	ENSP00000456336.1:n.84-13660G>T
ENST00000563917.1:n.417G>T
ENST00000564752.1:c.543G>T	ENSP00000457822.1:p.Met181Ile
ENST00000565471.5:c.84-1529G>T	ENSP00000457384.1:n.84-1529G>T
ENST00000566347.5:c.328G>T	ENSP00000457783.1:p.Asp110Tyr
ENST00000567060.5:c.298-1568G>T	ENSP00000454818.1:n.298-1568G>T
NM_017882.2:c.517G>T	NP_060352.1:p.Asp173Tyr
XR_931861.1:n.739G>T
NM_017882.3:c.517G>T MANE Select	NP_060352.1:p.Asp173Tyr