Canonical Allele Identifier: CA392971646

Gene: CLN6

Linked Data

• ClinVar Variation Id: 2671681
• ClinVar RCV Id: RCV003448766
• gnomAD v4: 15-68208193-A-G
• MyVariant Identifiers: chr15:g.68500531A>G (hg19) ; chr15:g.68208193A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208193A>G , CM000677.2:g.68208193A>G	GRCh38
NC_000015.9:g.68500531A>G , CM000677.1:g.68500531A>G	GRCh37
NC_000015.8:g.66287585A>G	NCBI36
NG_008764.2:g.54019T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.883T>C MANE Select	ENSP00000249806.5:p.Tyr295His
ENST00000562767.2:c.84-10565T>C	ENSP00000456336.1:n.84-10565T>C
ENST00000565471.6:c.424T>C	ENSP00000457384.1:p.Tyr142His
ENST00000635747.1:c.*786T>C	ENSP00000490627.1:n.*786T>C
ENST00000636212.1:c.*553T>C	ENSP00000489851.1:n.*553T>C
ENST00000636674.1:n.1985T>C
ENST00000636964.1:n.2411T>C
ENST00000637054.1:c.198+10343T>C	ENSP00000490807.1:n.198+10343T>C
ENST00000637329.1:c.852T>C
ENST00000637450.1:c.*537T>C	ENSP00000490204.1:n.*537T>C
ENST00000637494.1:c.595T>C	ENSP00000490057.1:p.Tyr199His
ENST00000637823.1:c.708T>C
ENST00000637888.1:c.198+10343T>C	ENSP00000490546.1:n.198+10343T>C
ENST00000638076.1:c.*486T>C	ENSP00000490373.1:n.*486T>C
ENST00000638144.1:n.526T>C
ENST00000646164.1:c.39-8512T>C
ENST00000249806.9:c.883T>C	ENSP00000249806.5:p.Tyr295His
ENST00000538696.5:c.979T>C	ENSP00000445770.1:p.Tyr327His
ENST00000562767.1:c.84-10565T>C	ENSP00000456336.1:n.84-10565T>C
ENST00000565471.5:c.424T>C	ENSP00000457384.1:p.Tyr142His
ENST00000566347.5:c.694T>C	ENSP00000457783.1:p.Tyr232His
ENST00000567060.5:c.*281T>C	ENSP00000454818.1:n.*281T>C
NM_017882.2:c.883T>C	NP_060352.1:p.Tyr295His
NM_017882.3:c.883T>C MANE Select	NP_060352.1:p.Tyr295His