Canonical Allele Identifier: CA491099768

Gene: CLN6

Linked Data

• dbSNP Id: rs1213482320
• gnomAD v2: 15-68500511-A-C
• gnomAD v4: 15-68208173-A-C
• MyVariant Identifiers: chr15:g.68500511A>C (hg19) ; chr15:g.68208173A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208173A>C , CM000677.2:g.68208173A>C	GRCh38
NC_000015.9:g.68500511A>C , CM000677.1:g.68500511A>C	GRCh37
NC_000015.8:g.66287565A>C	NCBI36
NG_008764.2:g.54039T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.903T>G MANE Select	ENSP00000249806.5:p.Ala301=
ENST00000562767.2:c.84-10545T>G	ENSP00000456336.1:n.84-10545T>G
ENST00000565471.6:c.444T>G	ENSP00000457384.1:p.Ala148=
ENST00000635747.1:c.*806T>G	ENSP00000490627.1:n.*806T>G
ENST00000636212.1:c.*573T>G	ENSP00000489851.1:n.*573T>G
ENST00000636674.1:n.2005T>G
ENST00000636964.1:n.2431T>G
ENST00000637054.1:c.198+10363T>G	ENSP00000490807.1:n.198+10363T>G
ENST00000637329.1:c.872T>G
ENST00000637494.1:c.615T>G	ENSP00000490057.1:p.Ala205=
ENST00000637888.1:c.198+10363T>G	ENSP00000490546.1:n.198+10363T>G
ENST00000638076.1:c.*506T>G	ENSP00000490373.1:n.*506T>G
ENST00000638144.1:n.546T>G
ENST00000646164.1:c.39-8492T>G
ENST00000249806.9:c.903T>G	ENSP00000249806.5:p.Ala301=
ENST00000538696.5:c.999T>G	ENSP00000445770.1:p.Ala333=
ENST00000562767.1:c.84-10545T>G	ENSP00000456336.1:n.84-10545T>G
ENST00000565471.5:c.444T>G	ENSP00000457384.1:p.Ala148=
ENST00000566347.5:c.714T>G	ENSP00000457783.1:p.Ala238=
ENST00000567060.5:c.*301T>G	ENSP00000454818.1:n.*301T>G
NM_017882.2:c.903T>G	NP_060352.1:p.Ala301=
NM_017882.3:c.903T>G MANE Select	NP_060352.1:p.Ala301=