Canonical Allele Identifier: CA313946

Gene: CLN6

Linked Data

• ClinVar Variation Id: 205157
• ClinVar RCV Id: RCV002415804 ; RCV001704977 ; RCV002513989
• dbSNP Id: rs374613712
• ExAC: 15:68500615 C / T
• gnomAD v2: 15-68500615-C-T
• gnomAD v3: 15-68208277-C-T
• gnomAD v4: 15-68208277-C-T
• MyVariant Identifiers: chr15:g.68500615C>T (hg19) ; chr15:g.68208277C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208277C>T , CM000677.2:g.68208277C>T	GRCh38
NC_000015.9:g.68500615C>T , CM000677.1:g.68500615C>T	GRCh37
NC_000015.8:g.66287669C>T	NCBI36
NG_008764.2:g.53935G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.799G>A MANE Select	ENSP00000249806.5:p.Ala267Thr
ENST00000562767.2:c.84-10649G>A	ENSP00000456336.1:n.84-10649G>A
ENST00000565471.6:c.340G>A	ENSP00000457384.1:p.Ala114Thr
ENST00000635747.1:c.*702G>A	ENSP00000490627.1:n.*702G>A
ENST00000636212.1:c.*469G>A	ENSP00000489851.1:n.*469G>A
ENST00000636674.1:n.1901G>A
ENST00000636964.1:n.2327G>A
ENST00000637054.1:c.198+10259G>A	ENSP00000490807.1:n.198+10259G>A
ENST00000637329.1:c.768G>A
ENST00000637450.1:c.*453G>A	ENSP00000490204.1:n.*453G>A
ENST00000637494.1:c.511G>A	ENSP00000490057.1:p.Ala171Thr
ENST00000637667.1:c.700G>A	ENSP00000489843.1:p.Ala234Thr
ENST00000637823.1:c.624G>A
ENST00000637888.1:c.198+10259G>A	ENSP00000490546.1:n.198+10259G>A
ENST00000638076.1:c.*402G>A	ENSP00000490373.1:n.*402G>A
ENST00000638144.1:n.442G>A
ENST00000646164.1:c.39-8596G>A
ENST00000249806.9:c.799G>A	ENSP00000249806.5:p.Ala267Thr
ENST00000538696.5:c.895G>A	ENSP00000445770.1:p.Ala299Thr
ENST00000562767.1:c.84-10649G>A	ENSP00000456336.1:n.84-10649G>A
ENST00000565471.5:c.340G>A	ENSP00000457384.1:p.Ala114Thr
ENST00000566347.5:c.610G>A	ENSP00000457783.1:p.Ala204Thr
ENST00000567060.5:c.*197G>A	ENSP00000454818.1:n.*197G>A
NM_017882.2:c.799G>A	NP_060352.1:p.Ala267Thr
NM_017882.3:c.799G>A MANE Select	NP_060352.1:p.Ala267Thr