Canonical Allele Identifier: CA7630469

Gene: CLN6

Linked Data

• dbSNP Id: rs756310256
• ExAC: 15:68500614 G / A
• gnomAD v2: 15-68500614-G-A
• gnomAD v3: 15-68208276-G-A
• gnomAD v4: 15-68208276-G-A
• MyVariant Identifiers: chr15:g.68500614G>A (hg19) ; chr15:g.68208276G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208276G>A , CM000677.2:g.68208276G>A	GRCh38
NC_000015.9:g.68500614G>A , CM000677.1:g.68500614G>A	GRCh37
NC_000015.8:g.66287668G>A	NCBI36
NG_008764.2:g.53936C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.800C>T MANE Select	ENSP00000249806.5:p.Ala267Val
ENST00000562767.2:c.84-10648C>T	ENSP00000456336.1:n.84-10648C>T
ENST00000565471.6:c.341C>T	ENSP00000457384.1:p.Ala114Val
ENST00000635747.1:c.*703C>T	ENSP00000490627.1:n.*703C>T
ENST00000636212.1:c.*470C>T	ENSP00000489851.1:n.*470C>T
ENST00000636674.1:n.1902C>T
ENST00000636964.1:n.2328C>T
ENST00000637054.1:c.198+10260C>T	ENSP00000490807.1:n.198+10260C>T
ENST00000637329.1:c.769C>T
ENST00000637450.1:c.*454C>T	ENSP00000490204.1:n.*454C>T
ENST00000637494.1:c.512C>T	ENSP00000490057.1:p.Ala171Val
ENST00000637667.1:c.701C>T	ENSP00000489843.1:p.Ala234Val
ENST00000637823.1:c.625C>T
ENST00000637888.1:c.198+10260C>T	ENSP00000490546.1:n.198+10260C>T
ENST00000638076.1:c.*403C>T	ENSP00000490373.1:n.*403C>T
ENST00000638144.1:n.443C>T
ENST00000646164.1:c.39-8595C>T
ENST00000249806.9:c.800C>T	ENSP00000249806.5:p.Ala267Val
ENST00000538696.5:c.896C>T	ENSP00000445770.1:p.Ala299Val
ENST00000562767.1:c.84-10648C>T	ENSP00000456336.1:n.84-10648C>T
ENST00000565471.5:c.341C>T	ENSP00000457384.1:p.Ala114Val
ENST00000566347.5:c.611C>T	ENSP00000457783.1:p.Ala204Val
ENST00000567060.5:c.*198C>T	ENSP00000454818.1:n.*198C>T
NM_017882.2:c.800C>T	NP_060352.1:p.Ala267Val
NM_017882.3:c.800C>T MANE Select	NP_060352.1:p.Ala267Val