Canonical Allele Identifier: CA10647342

Gene: CLN6

Linked Data

• ClinVar Variation Id: 316969
• ClinVar RCV Id: RCV000297997
• dbSNP Id: rs886051436
• gnomAD v4: 15-68207253-C-A
• MyVariant Identifiers: chr15:g.68499591C>A (hg19) ; chr15:g.68207253C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68207253C>A , CM000677.2:g.68207253C>A	GRCh38
NC_000015.9:g.68499591C>A , CM000677.1:g.68499591C>A	GRCh37
NC_000015.8:g.66286645C>A	NCBI36
NG_008764.2:g.54959G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.*887G>T MANE Select	ENSP00000249806.5:n.*887G>T
ENST00000562767.2:c.84-9625G>T	ENSP00000456336.1:n.84-9625G>T
ENST00000637054.1:c.199-9625G>T	ENSP00000490807.1:n.199-9625G>T
ENST00000637888.1:c.199-9625G>T	ENSP00000490546.1:n.199-9625G>T
ENST00000638026.1:n.428G>T
ENST00000638076.1:c.*1426G>T	ENSP00000490373.1:n.*1426G>T
ENST00000646164.1:c.39-7572G>T
ENST00000249806.9:c.*887G>T	ENSP00000249806.5:n.*887G>T
ENST00000562767.1:c.84-9625G>T	ENSP00000456336.1:n.84-9625G>T
NM_017882.2:c.*887G>T	NP_060352.1:n.*887G>T
NM_017882.3:c.*887G>T MANE Select	NP_060352.1:n.*887G>T