Canonical Allele Identifier: CA272382589

Gene: CLN6

Linked Data

• dbSNP Id: rs57058289
• gnomAD v4: 15-68208065-C-T
• MyVariant Identifiers: chr15:g.68500403C>T (hg19) ; chr15:g.68208065C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208065C>T , CM000677.2:g.68208065C>T	GRCh38
NC_000015.9:g.68500403C>T , CM000677.1:g.68500403C>T	GRCh37
NC_000015.8:g.66287457C>T	NCBI36
NG_008764.2:g.54147G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.*75G>A MANE Select	ENSP00000249806.5:n.*75G>A
ENST00000562767.2:c.84-10437G>A	ENSP00000456336.1:n.84-10437G>A
ENST00000565471.6:c.*75G>A	ENSP00000457384.1:n.*75G>A
ENST00000636964.1:n.2539G>A
ENST00000637054.1:c.199-10437G>A	ENSP00000490807.1:n.199-10437G>A
ENST00000637329.1:c.980G>A
ENST00000637888.1:c.199-10437G>A	ENSP00000490546.1:n.199-10437G>A
ENST00000638076.1:c.*614G>A	ENSP00000490373.1:n.*614G>A
ENST00000646164.1:c.39-8384G>A
ENST00000249806.9:c.*75G>A	ENSP00000249806.5:n.*75G>A
ENST00000562767.1:c.84-10437G>A	ENSP00000456336.1:n.84-10437G>A
ENST00000565471.5:c.*75G>A	ENSP00000457384.1:n.*75G>A
ENST00000566347.5:c.*75G>A	ENSP00000457783.1:n.*75G>A
ENST00000567060.5:c.*409G>A	ENSP00000454818.1:n.*409G>A
NM_017882.2:c.*75G>A	NP_060352.1:n.*75G>A
NM_017882.3:c.*75G>A MANE Select	NP_060352.1:n.*75G>A