Canonical Allele Identifier: CA392972933

Gene: CLN6

Linked Data

• gnomAD v4: 15-68209709-G-A
• MyVariant Identifiers: chr15:g.68502047G>A (hg19) ; chr15:g.68209709G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209709G>A , CM000677.2:g.68209709G>A	GRCh38
NC_000015.9:g.68502047G>A , CM000677.1:g.68502047G>A	GRCh37
NC_000015.8:g.66289101G>A	NCBI36
NG_008764.2:g.52503C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.593C>T MANE Select	ENSP00000249806.5:p.Thr198Ile
ENST00000562767.2:c.84-12081C>T	ENSP00000456336.1:n.84-12081C>T
ENST00000563917.2:n.435C>T
ENST00000565471.6:c.134C>T	ENSP00000457384.1:p.Thr45Ile
ENST00000635747.1:c.*496C>T	ENSP00000490627.1:n.*496C>T
ENST00000636212.1:c.*263C>T	ENSP00000489851.1:n.*263C>T
ENST00000636314.1:c.289C>T	ENSP00000490295.1:p.Leu97=
ENST00000636674.1:n.1695C>T
ENST00000636964.1:n.2121C>T
ENST00000637054.1:c.198+8827C>T	ENSP00000490807.1:n.198+8827C>T
ENST00000637223.1:c.*307C>T	ENSP00000490010.1:n.*307C>T
ENST00000637329.1:c.562C>T
ENST00000637450.1:c.*247C>T	ENSP00000490204.1:n.*247C>T
ENST00000637494.1:c.305C>T	ENSP00000490057.1:p.Thr102Ile
ENST00000637667.1:c.494C>T	ENSP00000489843.1:p.Thr165Ile
ENST00000637823.1:c.418C>T
ENST00000637888.1:c.198+8827C>T	ENSP00000490546.1:n.198+8827C>T
ENST00000638076.1:c.*196C>T	ENSP00000490373.1:n.*196C>T
ENST00000638144.1:n.236C>T
ENST00000646164.1:c.38+8827C>T
ENST00000249806.9:c.593C>T	ENSP00000249806.5:p.Thr198Ile
ENST00000538696.5:c.689C>T	ENSP00000445770.1:p.Thr230Ile
ENST00000562767.1:c.84-12081C>T	ENSP00000456336.1:n.84-12081C>T
ENST00000563917.1:n.493C>T
ENST00000564752.1:c.619C>T	ENSP00000457822.1:p.Leu207=
ENST00000565471.5:c.134C>T	ENSP00000457384.1:p.Thr45Ile
ENST00000566347.5:c.404C>T	ENSP00000457783.1:p.Thr135Ile
ENST00000567060.5:c.309C>T	ENSP00000454818.1:p.Tyr103=
NM_017882.2:c.593C>T	NP_060352.1:p.Thr198Ile
XR_931861.1:n.815C>T
NM_017882.3:c.593C>T MANE Select	NP_060352.1:p.Thr198Ile