Canonical Allele Identifier: CA392972863

Gene: CLN6

Linked Data

• gnomAD v4: 15-68209683-G-A
• MyVariant Identifiers: chr15:g.68502021G>A (hg19) ; chr15:g.68209683G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209683G>A , CM000677.2:g.68209683G>A	GRCh38
NC_000015.9:g.68502021G>A , CM000677.1:g.68502021G>A	GRCh37
NC_000015.8:g.66289075G>A	NCBI36
NG_008764.2:g.52529C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.619C>T MANE Select	ENSP00000249806.5:p.Pro207Ser
ENST00000562767.2:c.84-12055C>T	ENSP00000456336.1:n.84-12055C>T
ENST00000563917.2:n.461C>T
ENST00000565471.6:c.160C>T	ENSP00000457384.1:p.Pro54Ser
ENST00000635747.1:c.*522C>T	ENSP00000490627.1:n.*522C>T
ENST00000636212.1:c.*289C>T	ENSP00000489851.1:n.*289C>T
ENST00000636314.1:c.*3C>T	ENSP00000490295.1:n.*3C>T
ENST00000636674.1:n.1721C>T
ENST00000636964.1:n.2147C>T
ENST00000637054.1:c.198+8853C>T	ENSP00000490807.1:n.198+8853C>T
ENST00000637329.1:c.588C>T
ENST00000637450.1:c.*273C>T	ENSP00000490204.1:n.*273C>T
ENST00000637494.1:c.331C>T	ENSP00000490057.1:p.Pro111Ser
ENST00000637667.1:c.520C>T	ENSP00000489843.1:p.Pro174Ser
ENST00000637823.1:c.444C>T
ENST00000637888.1:c.198+8853C>T	ENSP00000490546.1:n.198+8853C>T
ENST00000638076.1:c.*222C>T	ENSP00000490373.1:n.*222C>T
ENST00000638144.1:n.262C>T
ENST00000646164.1:c.38+8853C>T
ENST00000249806.9:c.619C>T	ENSP00000249806.5:p.Pro207Ser
ENST00000538696.5:c.715C>T	ENSP00000445770.1:p.Pro239Ser
ENST00000562767.1:c.84-12055C>T	ENSP00000456336.1:n.84-12055C>T
ENST00000563917.1:n.519C>T
ENST00000564752.1:c.*3C>T	ENSP00000457822.1:n.*3C>T
ENST00000565471.5:c.160C>T	ENSP00000457384.1:p.Pro54Ser
ENST00000566347.5:c.430C>T	ENSP00000457783.1:p.Pro144Ser
ENST00000567060.5:c.*17C>T	ENSP00000454818.1:n.*17C>T
NM_017882.2:c.619C>T	NP_060352.1:p.Pro207Ser
XR_931861.1:n.841C>T
NM_017882.3:c.619C>T MANE Select	NP_060352.1:p.Pro207Ser