Canonical Allele Identifier: CA490913196

Gene: CLN6

Linked Data

• gnomAD v4: 15-68211858-G-T
• MyVariant Identifiers: chr15:g.68504196G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211858G>T , CM000677.2:g.68211858G>T	GRCh38
NC_000015.9:g.68504196G>T , CM000677.1:g.68504196G>T	GRCh37
NC_000015.8:g.66291250G>T	NCBI36
NG_008764.2:g.50354C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.303C>A MANE Select	ENSP00000249806.5:p.Ile101=
ENST00000562767.2:c.84-14230C>A	ENSP00000456336.1:n.84-14230C>A
ENST00000563917.2:n.145C>A
ENST00000565471.6:c.84-2099C>A	ENSP00000457384.1:n.84-2099C>A
ENST00000635747.1:c.*206C>A	ENSP00000490627.1:n.*206C>A
ENST00000636212.1:c.298-117C>A	ENSP00000489851.1:n.298-117C>A
ENST00000636314.1:c.183-540C>A	ENSP00000490295.1:n.183-540C>A
ENST00000636674.1:n.1286C>A
ENST00000636964.1:n.1475C>A
ENST00000637054.1:c.198+6678C>A	ENSP00000490807.1:n.198+6678C>A
ENST00000637223.1:c.*201-540C>A	ENSP00000490010.1:n.*201-540C>A
ENST00000637329.1:c.272C>A
ENST00000637450.1:c.188C>A	ENSP00000490204.1:p.Ser63Ter
ENST00000637494.1:c.199-540C>A	ENSP00000490057.1:n.199-540C>A
ENST00000637667.1:c.204C>A	ENSP00000489843.1:p.Ile68=
ENST00000637823.1:c.224-215C>A
ENST00000637888.1:c.198+6678C>A	ENSP00000490546.1:n.198+6678C>A
ENST00000638076.1:c.303C>A	ENSP00000490373.1:p.Ile101=
ENST00000638144.1:n.130-540C>A
ENST00000646164.1:c.38+6678C>A
ENST00000249806.9:c.303C>A	ENSP00000249806.5:p.Ile101=
ENST00000538696.5:c.399C>A	ENSP00000445770.1:p.Ile133=
ENST00000562767.1:c.84-14230C>A	ENSP00000456336.1:n.84-14230C>A
ENST00000563917.1:n.84C>A
ENST00000564752.1:c.303C>A	ENSP00000457822.1:p.Ile101=
ENST00000565471.5:c.84-2099C>A	ENSP00000457384.1:n.84-2099C>A
ENST00000566347.5:c.298-540C>A	ENSP00000457783.1:n.298-540C>A
ENST00000567060.5:c.298-2138C>A	ENSP00000454818.1:n.298-2138C>A
NM_017882.2:c.303C>A	NP_060352.1:p.Ile101=
XR_931861.1:n.406C>A
NM_017882.3:c.303C>A MANE Select	NP_060352.1:p.Ile101=