Canonical Allele Identifier: CA272383424

Gene: CLN6

Linked Data

• dbSNP Id: rs985852241
• MyVariant Identifiers: chr15:g.68501818C>A (hg19) ; chr15:g.68209480C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209480C>A , CM000677.2:g.68209480C>A	GRCh38
NC_000015.9:g.68501818C>A , CM000677.1:g.68501818C>A	GRCh37
NC_000015.8:g.66288872C>A	NCBI36
NG_008764.2:g.52732G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.665+157G>T MANE Select	ENSP00000249806.5:n.665+157G>T
ENST00000562767.2:c.84-11852G>T	ENSP00000456336.1:n.84-11852G>T
ENST00000563917.2:n.507+157G>T
ENST00000565471.6:c.206+157G>T	ENSP00000457384.1:n.206+157G>T
ENST00000635747.1:c.*568+157G>T	ENSP00000490627.1:n.*568+157G>T
ENST00000636212.1:c.*335+157G>T	ENSP00000489851.1:n.*335+157G>T
ENST00000636674.1:n.1767+157G>T
ENST00000636964.1:n.2193+157G>T
ENST00000637054.1:c.198+9056G>T	ENSP00000490807.1:n.198+9056G>T
ENST00000637329.1:c.634+157G>T
ENST00000637450.1:c.*319+157G>T	ENSP00000490204.1:n.*319+157G>T
ENST00000637494.1:c.377+157G>T	ENSP00000490057.1:n.377+157G>T
ENST00000637667.1:c.566+157G>T	ENSP00000489843.1:n.566+157G>T
ENST00000637823.1:c.490+157G>T
ENST00000637888.1:c.198+9056G>T	ENSP00000490546.1:n.198+9056G>T
ENST00000638076.1:c.*268+157G>T	ENSP00000490373.1:n.*268+157G>T
ENST00000638144.1:n.308+157G>T
ENST00000646164.1:c.38+9056G>T
ENST00000249806.9:c.665+157G>T	ENSP00000249806.5:n.665+157G>T
ENST00000538696.5:c.761+157G>T	ENSP00000445770.1:n.761+157G>T
ENST00000562767.1:c.84-11852G>T	ENSP00000456336.1:n.84-11852G>T
ENST00000564752.1:c.*49+157G>T	ENSP00000457822.1:n.*49+157G>T
ENST00000565471.5:c.206+157G>T	ENSP00000457384.1:n.206+157G>T
ENST00000566347.5:c.476+157G>T	ENSP00000457783.1:n.476+157G>T
ENST00000567060.5:c.*63+157G>T	ENSP00000454818.1:n.*63+157G>T
NM_017882.2:c.665+157G>T	NP_060352.1:n.665+157G>T
XR_931861.1:n.887+157G>T
NM_017882.3:c.665+157G>T MANE Select	NP_060352.1:n.665+157G>T