Canonical Allele Identifier: CA392975796

Gene: CLN6

Linked Data

• gnomAD v4: 15-68218609-G-C
• MyVariant Identifiers: chr15:g.68510947G>C (hg19) ; chr15:g.68218609G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68218609G>C , CM000677.2:g.68218609G>C	GRCh38
NC_000015.9:g.68510947G>C , CM000677.1:g.68510947G>C	GRCh37
NC_000015.8:g.66298001G>C	NCBI36
NG_008764.2:g.43603C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.125C>G MANE Select	ENSP00000249806.5:p.Pro42Arg
ENST00000562767.2:c.83+10893C>G	ENSP00000456336.1:n.83+10893C>G
ENST00000563917.2:n.41-4221C>G
ENST00000565471.6:c.84-8850C>G	ENSP00000457384.1:n.84-8850C>G
ENST00000569336.2:n.34C>G
ENST00000635747.1:c.*28C>G	ENSP00000490627.1:n.*28C>G
ENST00000636020.1:n.257C>G
ENST00000636212.1:c.125C>G	ENSP00000489851.1:p.Pro42Arg
ENST00000636314.1:c.84-4221C>G	ENSP00000490295.1:n.84-4221C>G
ENST00000636876.1:c.*145C>G	ENSP00000489950.1:n.*145C>G
ENST00000637054.1:c.125C>G	ENSP00000490807.1:p.Pro42Arg
ENST00000637223.1:c.*28C>G	ENSP00000490010.1:n.*28C>G
ENST00000637329.1:c.36C>G
ENST00000637450.1:c.84-4221C>G	ENSP00000490204.1:n.84-4221C>G
ENST00000637494.1:c.125C>G	ENSP00000490057.1:p.Pro42Arg
ENST00000637667.1:c.125C>G	ENSP00000489843.1:p.Pro42Arg
ENST00000637823.1:c.51C>G
ENST00000637888.1:c.125C>G	ENSP00000490546.1:p.Pro42Arg
ENST00000638076.1:c.125C>G	ENSP00000490373.1:p.Pro42Arg
ENST00000638144.1:n.31-4221C>G
ENST00000249806.9:c.125C>G	ENSP00000249806.5:p.Pro42Arg
ENST00000538696.5:c.221C>G	ENSP00000445770.1:p.Pro74Arg
ENST00000562767.1:c.83+10893C>G	ENSP00000456336.1:n.83+10893C>G
ENST00000564752.1:c.125C>G	ENSP00000457822.1:p.Pro42Arg
ENST00000564846.1:n.557C>G
ENST00000565471.5:c.84-8850C>G	ENSP00000457384.1:n.84-8850C>G
ENST00000566347.5:c.125C>G	ENSP00000457783.1:p.Pro42Arg
ENST00000567060.5:c.125C>G	ENSP00000454818.1:p.Pro42Arg
ENST00000569336.1:n.211C>G
NM_017882.2:c.125C>G	NP_060352.1:p.Pro42Arg
XR_931861.1:n.228C>G
NM_017882.3:c.125C>G MANE Select	NP_060352.1:p.Pro42Arg