Canonical Allele Identifier: CA392971576

Gene: CLN6

Linked Data

• gnomAD v4: 15-68208174-G-T
• MyVariant Identifiers: chr15:g.68500512G>T (hg19) ; chr15:g.68208174G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208174G>T , CM000677.2:g.68208174G>T	GRCh38
NC_000015.9:g.68500512G>T , CM000677.1:g.68500512G>T	GRCh37
NC_000015.8:g.66287566G>T	NCBI36
NG_008764.2:g.54038C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.902C>A MANE Select	ENSP00000249806.5:p.Ala301Asp
ENST00000562767.2:c.84-10546C>A	ENSP00000456336.1:n.84-10546C>A
ENST00000565471.6:c.443C>A	ENSP00000457384.1:p.Ala148Asp
ENST00000635747.1:c.*805C>A	ENSP00000490627.1:n.*805C>A
ENST00000636212.1:c.*572C>A	ENSP00000489851.1:n.*572C>A
ENST00000636674.1:n.2004C>A
ENST00000636964.1:n.2430C>A
ENST00000637054.1:c.198+10362C>A	ENSP00000490807.1:n.198+10362C>A
ENST00000637329.1:c.871C>A
ENST00000637494.1:c.614C>A	ENSP00000490057.1:p.Ala205Asp
ENST00000637888.1:c.198+10362C>A	ENSP00000490546.1:n.198+10362C>A
ENST00000638076.1:c.*505C>A	ENSP00000490373.1:n.*505C>A
ENST00000638144.1:n.545C>A
ENST00000646164.1:c.39-8493C>A
ENST00000249806.9:c.902C>A	ENSP00000249806.5:p.Ala301Asp
ENST00000538696.5:c.998C>A	ENSP00000445770.1:p.Ala333Asp
ENST00000562767.1:c.84-10546C>A	ENSP00000456336.1:n.84-10546C>A
ENST00000565471.5:c.443C>A	ENSP00000457384.1:p.Ala148Asp
ENST00000566347.5:c.713C>A	ENSP00000457783.1:p.Ala238Asp
ENST00000567060.5:c.*300C>A	ENSP00000454818.1:n.*300C>A
NM_017882.2:c.902C>A	NP_060352.1:p.Ala301Asp
NM_017882.3:c.902C>A MANE Select	NP_060352.1:p.Ala301Asp