Canonical Allele Identifier: CA392973553

Gene: CLN6

Linked Data

• dbSNP Id: rs1046423746
• gnomAD v2: 15-68504129-C-T
• gnomAD v4: 15-68211791-C-T
• MyVariant Identifiers: chr15:g.68504129C>T (hg19) ; chr15:g.68211791C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211791C>T , CM000677.2:g.68211791C>T	GRCh38
NC_000015.9:g.68504129C>T , CM000677.1:g.68504129C>T	GRCh37
NC_000015.8:g.66291183C>T	NCBI36
NG_008764.2:g.50421G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.370G>A MANE Select	ENSP00000249806.5:p.Ala124Thr
ENST00000562767.2:c.84-14163G>A	ENSP00000456336.1:n.84-14163G>A
ENST00000563917.2:n.212G>A
ENST00000565471.6:c.84-2032G>A	ENSP00000457384.1:n.84-2032G>A
ENST00000635747.1:c.*273G>A	ENSP00000490627.1:n.*273G>A
ENST00000636212.1:c.298-50G>A	ENSP00000489851.1:n.298-50G>A
ENST00000636314.1:c.183-473G>A	ENSP00000490295.1:n.183-473G>A
ENST00000636674.1:n.1353G>A
ENST00000636964.1:n.1542G>A
ENST00000637054.1:c.198+6745G>A	ENSP00000490807.1:n.198+6745G>A
ENST00000637223.1:c.*201-473G>A	ENSP00000490010.1:n.*201-473G>A
ENST00000637329.1:c.339G>A
ENST00000637450.1:c.*24G>A	ENSP00000490204.1:n.*24G>A
ENST00000637494.1:c.199-473G>A	ENSP00000490057.1:n.199-473G>A
ENST00000637667.1:c.271G>A	ENSP00000489843.1:p.Ala91Thr
ENST00000637823.1:c.224-148G>A
ENST00000637888.1:c.198+6745G>A	ENSP00000490546.1:n.198+6745G>A
ENST00000638076.1:c.370G>A	ENSP00000490373.1:p.Ala124Thr
ENST00000638144.1:n.130-473G>A
ENST00000646164.1:c.38+6745G>A
ENST00000249806.9:c.370G>A	ENSP00000249806.5:p.Ala124Thr
ENST00000538696.5:c.466G>A	ENSP00000445770.1:p.Ala156Thr
ENST00000562767.1:c.84-14163G>A	ENSP00000456336.1:n.84-14163G>A
ENST00000563917.1:n.151G>A
ENST00000564752.1:c.370G>A	ENSP00000457822.1:p.Ala124Thr
ENST00000565471.5:c.84-2032G>A	ENSP00000457384.1:n.84-2032G>A
ENST00000566347.5:c.298-473G>A	ENSP00000457783.1:n.298-473G>A
ENST00000567060.5:c.298-2071G>A	ENSP00000454818.1:n.298-2071G>A
NM_017882.2:c.370G>A	NP_060352.1:p.Ala124Thr
XR_931861.1:n.473G>A
NM_017882.3:c.370G>A MANE Select	NP_060352.1:p.Ala124Thr