Canonical Allele Identifier: CA392972357

Gene: CLN6

Linked Data

• dbSNP Id: rs2093194280
• gnomAD v3: 15-68208399-G-A
• gnomAD v4: 15-68208399-G-A
• MyVariant Identifiers: chr15:g.68500737G>A (hg19) ; chr15:g.68208399G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208399G>A , CM000677.2:g.68208399G>A	GRCh38
NC_000015.9:g.68500737G>A , CM000677.1:g.68500737G>A	GRCh37
NC_000015.8:g.66287791G>A	NCBI36
NG_008764.2:g.53813C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.677C>T MANE Select	ENSP00000249806.5:p.Thr226Ile
ENST00000562767.2:c.84-10771C>T	ENSP00000456336.1:n.84-10771C>T
ENST00000563917.2:n.519C>T
ENST00000565471.6:c.218C>T	ENSP00000457384.1:p.Thr73Ile
ENST00000635747.1:c.*580C>T	ENSP00000490627.1:n.*580C>T
ENST00000636212.1:c.*347C>T	ENSP00000489851.1:n.*347C>T
ENST00000636674.1:n.1779C>T
ENST00000636964.1:n.2205C>T
ENST00000637054.1:c.198+10137C>T	ENSP00000490807.1:n.198+10137C>T
ENST00000637329.1:c.646C>T
ENST00000637450.1:c.*331C>T	ENSP00000490204.1:n.*331C>T
ENST00000637494.1:c.389C>T	ENSP00000490057.1:p.Thr130Ile
ENST00000637667.1:c.578C>T	ENSP00000489843.1:p.Thr193Ile
ENST00000637823.1:c.502C>T
ENST00000637888.1:c.198+10137C>T	ENSP00000490546.1:n.198+10137C>T
ENST00000638076.1:c.*280C>T	ENSP00000490373.1:n.*280C>T
ENST00000638144.1:n.320C>T
ENST00000646164.1:c.39-8718C>T
ENST00000249806.9:c.677C>T	ENSP00000249806.5:p.Thr226Ile
ENST00000538696.5:c.773C>T	ENSP00000445770.1:p.Thr258Ile
ENST00000562767.1:c.84-10771C>T	ENSP00000456336.1:n.84-10771C>T
ENST00000564752.1:c.*61C>T	ENSP00000457822.1:n.*61C>T
ENST00000565471.5:c.218C>T	ENSP00000457384.1:p.Thr73Ile
ENST00000566347.5:c.488C>T	ENSP00000457783.1:p.Thr163Ile
ENST00000567060.5:c.*75C>T	ENSP00000454818.1:n.*75C>T
NM_017882.2:c.677C>T	NP_060352.1:p.Thr226Ile
XR_931861.1:n.899C>T
NM_017882.3:c.677C>T MANE Select	NP_060352.1:p.Thr226Ile