Canonical Allele Identifier: CA392971867

Gene: CLN6

Linked Data

• gnomAD v4: 15-68208256-C-A
• MyVariant Identifiers: chr15:g.68500594C>A (hg19) ; chr15:g.68208256C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208256C>A , CM000677.2:g.68208256C>A	GRCh38
NC_000015.9:g.68500594C>A , CM000677.1:g.68500594C>A	GRCh37
NC_000015.8:g.66287648C>A	NCBI36
NG_008764.2:g.53956G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.820G>T MANE Select	ENSP00000249806.5:p.Ala274Ser
ENST00000562767.2:c.84-10628G>T	ENSP00000456336.1:n.84-10628G>T
ENST00000565471.6:c.361G>T	ENSP00000457384.1:p.Ala121Ser
ENST00000635747.1:c.*723G>T	ENSP00000490627.1:n.*723G>T
ENST00000636212.1:c.*490G>T	ENSP00000489851.1:n.*490G>T
ENST00000636674.1:n.1922G>T
ENST00000636964.1:n.2348G>T
ENST00000637054.1:c.198+10280G>T	ENSP00000490807.1:n.198+10280G>T
ENST00000637329.1:c.789G>T
ENST00000637450.1:c.*474G>T	ENSP00000490204.1:n.*474G>T
ENST00000637494.1:c.532G>T	ENSP00000490057.1:p.Ala178Ser
ENST00000637667.1:c.721G>T	ENSP00000489843.1:p.Ala241Ser
ENST00000637823.1:c.645G>T
ENST00000637888.1:c.198+10280G>T	ENSP00000490546.1:n.198+10280G>T
ENST00000638076.1:c.*423G>T	ENSP00000490373.1:n.*423G>T
ENST00000638144.1:n.463G>T
ENST00000646164.1:c.39-8575G>T
ENST00000249806.9:c.820G>T	ENSP00000249806.5:p.Ala274Ser
ENST00000538696.5:c.916G>T	ENSP00000445770.1:p.Ala306Ser
ENST00000562767.1:c.84-10628G>T	ENSP00000456336.1:n.84-10628G>T
ENST00000565471.5:c.361G>T	ENSP00000457384.1:p.Ala121Ser
ENST00000566347.5:c.631G>T	ENSP00000457783.1:p.Ala211Ser
ENST00000567060.5:c.*218G>T	ENSP00000454818.1:n.*218G>T
NM_017882.2:c.820G>T	NP_060352.1:p.Ala274Ser
NM_017882.3:c.820G>T MANE Select	NP_060352.1:p.Ala274Ser