Canonical Allele Identifier: CA7630471

Gene: CLN6

Linked Data

• ClinVar Variation Id: 1393090
• ClinVar RCV Id: RCV001912483
• dbSNP Id: rs771007065
• ExAC: 15:68500620 G / A
• gnomAD v2: 15-68500620-G-A
• gnomAD v4: 15-68208282-G-A
• MyVariant Identifiers: chr15:g.68500620G>A (hg19) ; chr15:g.68208282G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208282G>A , CM000677.2:g.68208282G>A	GRCh38
NC_000015.9:g.68500620G>A , CM000677.1:g.68500620G>A	GRCh37
NC_000015.8:g.66287674G>A	NCBI36
NG_008764.2:g.53930C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.794C>T MANE Select	ENSP00000249806.5:p.Ser265Phe
ENST00000562767.2:c.84-10654C>T	ENSP00000456336.1:n.84-10654C>T
ENST00000565471.6:c.335C>T	ENSP00000457384.1:p.Ser112Phe
ENST00000635747.1:c.*697C>T	ENSP00000490627.1:n.*697C>T
ENST00000636212.1:c.*464C>T	ENSP00000489851.1:n.*464C>T
ENST00000636674.1:n.1896C>T
ENST00000636964.1:n.2322C>T
ENST00000637054.1:c.198+10254C>T	ENSP00000490807.1:n.198+10254C>T
ENST00000637329.1:c.763C>T
ENST00000637450.1:c.*448C>T	ENSP00000490204.1:n.*448C>T
ENST00000637494.1:c.506C>T	ENSP00000490057.1:p.Ser169Phe
ENST00000637667.1:c.695C>T	ENSP00000489843.1:p.Ser232Phe
ENST00000637823.1:c.619C>T
ENST00000637888.1:c.198+10254C>T	ENSP00000490546.1:n.198+10254C>T
ENST00000638076.1:c.*397C>T	ENSP00000490373.1:n.*397C>T
ENST00000638144.1:n.437C>T
ENST00000646164.1:c.39-8601C>T
ENST00000249806.9:c.794C>T	ENSP00000249806.5:p.Ser265Phe
ENST00000538696.5:c.890C>T	ENSP00000445770.1:p.Ser297Phe
ENST00000562767.1:c.84-10654C>T	ENSP00000456336.1:n.84-10654C>T
ENST00000565471.5:c.335C>T	ENSP00000457384.1:p.Ser112Phe
ENST00000566347.5:c.605C>T	ENSP00000457783.1:p.Ser202Phe
ENST00000567060.5:c.*192C>T	ENSP00000454818.1:n.*192C>T
NM_017882.2:c.794C>T	NP_060352.1:p.Ser265Phe
NM_017882.3:c.794C>T MANE Select	NP_060352.1:p.Ser265Phe