Canonical Allele Identifier: CA618959376

Gene: CLN6

Linked Data

• dbSNP Id: rs911762608
• gnomAD v2: 15-68500399-C-A
• gnomAD v3: 15-68208061-C-A
• gnomAD v4: 15-68208061-C-A
• MyVariant Identifiers: chr15:g.68500399C>A (hg19) ; chr15:g.68208061C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208061C>A , CM000677.2:g.68208061C>A	GRCh38
NC_000015.9:g.68500399C>A , CM000677.1:g.68500399C>A	GRCh37
NC_000015.8:g.66287453C>A	NCBI36
NG_008764.2:g.54151G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.*79G>T MANE Select	ENSP00000249806.5:n.*79G>T
ENST00000562767.2:c.84-10433G>T	ENSP00000456336.1:n.84-10433G>T
ENST00000565471.6:c.*79G>T	ENSP00000457384.1:n.*79G>T
ENST00000636964.1:n.2543G>T
ENST00000637054.1:c.199-10433G>T	ENSP00000490807.1:n.199-10433G>T
ENST00000637329.1:c.984G>T
ENST00000637888.1:c.199-10433G>T	ENSP00000490546.1:n.199-10433G>T
ENST00000638076.1:c.*618G>T	ENSP00000490373.1:n.*618G>T
ENST00000646164.1:c.39-8380G>T
ENST00000249806.9:c.*79G>T	ENSP00000249806.5:n.*79G>T
ENST00000562767.1:c.84-10433G>T	ENSP00000456336.1:n.84-10433G>T
ENST00000565471.5:c.*79G>T	ENSP00000457384.1:n.*79G>T
ENST00000566347.5:c.*79G>T	ENSP00000457783.1:n.*79G>T
ENST00000567060.5:c.*413G>T	ENSP00000454818.1:n.*413G>T
NM_017882.2:c.*79G>T	NP_060352.1:n.*79G>T
NM_017882.3:c.*79G>T MANE Select	NP_060352.1:n.*79G>T