Canonical Allele Identifier: CA392971977

Gene: CLN6

Linked Data

• ClinVar Variation Id: 2057579
• ClinVar RCV Id: RCV002942027
• dbSNP Id: rs1287447955
• gnomAD v2: 15-68500641-T-C
• gnomAD v4: 15-68208303-T-C
• MyVariant Identifiers: chr15:g.68500641T>C (hg19) ; chr15:g.68208303T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208303T>C , CM000677.2:g.68208303T>C	GRCh38
NC_000015.9:g.68500641T>C , CM000677.1:g.68500641T>C	GRCh37
NC_000015.8:g.66287695T>C	NCBI36
NG_008764.2:g.53909A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.773A>G MANE Select	ENSP00000249806.5:p.Asn258Ser
ENST00000562767.2:c.84-10675A>G	ENSP00000456336.1:n.84-10675A>G
ENST00000565471.6:c.314A>G	ENSP00000457384.1:p.Asn105Ser
ENST00000635747.1:c.*676A>G	ENSP00000490627.1:n.*676A>G
ENST00000636212.1:c.*443A>G	ENSP00000489851.1:n.*443A>G
ENST00000636674.1:n.1875A>G
ENST00000636964.1:n.2301A>G
ENST00000637054.1:c.198+10233A>G	ENSP00000490807.1:n.198+10233A>G
ENST00000637329.1:c.742A>G
ENST00000637450.1:c.*427A>G	ENSP00000490204.1:n.*427A>G
ENST00000637494.1:c.485A>G	ENSP00000490057.1:p.Asn162Ser
ENST00000637667.1:c.674A>G	ENSP00000489843.1:p.Asn225Ser
ENST00000637823.1:c.598A>G
ENST00000637888.1:c.198+10233A>G	ENSP00000490546.1:n.198+10233A>G
ENST00000638076.1:c.*376A>G	ENSP00000490373.1:n.*376A>G
ENST00000638144.1:n.416A>G
ENST00000646164.1:c.39-8622A>G
ENST00000249806.9:c.773A>G	ENSP00000249806.5:p.Asn258Ser
ENST00000538696.5:c.869A>G	ENSP00000445770.1:p.Asn290Ser
ENST00000562767.1:c.84-10675A>G	ENSP00000456336.1:n.84-10675A>G
ENST00000565471.5:c.314A>G	ENSP00000457384.1:p.Asn105Ser
ENST00000566347.5:c.584A>G	ENSP00000457783.1:p.Asn195Ser
ENST00000567060.5:c.*171A>G	ENSP00000454818.1:n.*171A>G
NM_017882.2:c.773A>G	NP_060352.1:p.Asn258Ser
NM_017882.3:c.773A>G MANE Select	NP_060352.1:p.Asn258Ser