Canonical Allele Identifier: CA7630437

Gene: CLN6

Linked Data

• dbSNP Id: rs748166231
• ExAC: 15:68500479 C / T
• gnomAD v2: 15-68500479-C-T
• gnomAD v4: 15-68208141-C-T
• MyVariant Identifiers: chr15:g.68500479C>T (hg19) ; chr15:g.68208141C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208141C>T , CM000677.2:g.68208141C>T	GRCh38
NC_000015.9:g.68500479C>T , CM000677.1:g.68500479C>T	GRCh37
NC_000015.8:g.66287533C>T	NCBI36
NG_008764.2:g.54071G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.935G>A MANE Select	ENSP00000249806.5:p.Ter312=
ENST00000562767.2:c.84-10513G>A	ENSP00000456336.1:n.84-10513G>A
ENST00000565471.6:c.476G>A	ENSP00000457384.1:p.Ter159=
ENST00000635747.1:c.*838G>A	ENSP00000490627.1:n.*838G>A
ENST00000636964.1:n.2463G>A
ENST00000637054.1:c.198+10395G>A	ENSP00000490807.1:n.198+10395G>A
ENST00000637329.1:c.904G>A
ENST00000637494.1:c.647G>A	ENSP00000490057.1:p.Ter216=
ENST00000637888.1:c.198+10395G>A	ENSP00000490546.1:n.198+10395G>A
ENST00000638076.1:c.*538G>A	ENSP00000490373.1:n.*538G>A
ENST00000646164.1:c.39-8460G>A
ENST00000249806.9:c.935G>A	ENSP00000249806.5:p.Ter312=
ENST00000538696.5:c.1031G>A	ENSP00000445770.1:p.Ter344=
ENST00000562767.1:c.84-10513G>A	ENSP00000456336.1:n.84-10513G>A
ENST00000565471.5:c.476G>A	ENSP00000457384.1:p.Ter159=
ENST00000566347.5:c.746G>A	ENSP00000457783.1:p.Ter249=
ENST00000567060.5:c.*333G>A	ENSP00000454818.1:n.*333G>A
NM_017882.2:c.935G>A	NP_060352.1:p.Ter312=
NM_017882.3:c.935G>A MANE Select	NP_060352.1:p.Ter312=