Canonical Allele Identifier: CA247303

Gene: CLN6

Linked Data

• ClinVar Variation Id: 198573
• ClinVar RCV Id: RCV000187108 ; RCV000515242 ; RCV000724552 ; RCV001080133 ; RCV002054140 ; RCV002314666 ; RCV003398902
• dbSNP Id: rs143578698
• ExAC: 15:68500491 C / G
• gnomAD v2: 15-68500491-C-G
• gnomAD v3: 15-68208153-C-G
• gnomAD v4: 15-68208153-C-G
• MyVariant Identifiers: chr15:g.68500491C>G (hg19) ; chr15:g.68208153C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208153C>G , CM000677.2:g.68208153C>G	GRCh38
NC_000015.9:g.68500491C>G , CM000677.1:g.68500491C>G	GRCh37
NC_000015.8:g.66287545C>G	NCBI36
NG_008764.2:g.54059G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.923G>C MANE Select	ENSP00000249806.5:p.Ser308Thr
ENST00000562767.2:c.84-10525G>C	ENSP00000456336.1:n.84-10525G>C
ENST00000565471.6:c.464G>C	ENSP00000457384.1:p.Ser155Thr
ENST00000635747.1:c.*826G>C	ENSP00000490627.1:n.*826G>C
ENST00000636212.1:c.*593G>C	ENSP00000489851.1:n.*593G>C
ENST00000636964.1:n.2451G>C
ENST00000637054.1:c.198+10383G>C	ENSP00000490807.1:n.198+10383G>C
ENST00000637329.1:c.892G>C
ENST00000637494.1:c.635G>C	ENSP00000490057.1:p.Ser212Thr
ENST00000637888.1:c.198+10383G>C	ENSP00000490546.1:n.198+10383G>C
ENST00000638076.1:c.*526G>C	ENSP00000490373.1:n.*526G>C
ENST00000638144.1:n.566G>C
ENST00000646164.1:c.39-8472G>C
ENST00000249806.9:c.923G>C	ENSP00000249806.5:p.Ser308Thr
ENST00000538696.5:c.1019G>C	ENSP00000445770.1:p.Ser340Thr
ENST00000562767.1:c.84-10525G>C	ENSP00000456336.1:n.84-10525G>C
ENST00000565471.5:c.464G>C	ENSP00000457384.1:p.Ser155Thr
ENST00000566347.5:c.734G>C	ENSP00000457783.1:p.Ser245Thr
ENST00000567060.5:c.*321G>C	ENSP00000454818.1:n.*321G>C
NM_017882.2:c.923G>C	NP_060352.1:p.Ser308Thr
NM_017882.3:c.923G>C MANE Select	NP_060352.1:p.Ser308Thr