Canonical Allele Identifier: CA7630479

Gene: CLN6

Linked Data

• dbSNP Id: rs767889707
• ExAC: 15:68500674 T / G
• gnomAD v2: 15-68500674-T-G
• gnomAD v4: 15-68208336-T-G
• MyVariant Identifiers: chr15:g.68500674T>G (hg19) ; chr15:g.68208336T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208336T>G , CM000677.2:g.68208336T>G	GRCh38
NC_000015.9:g.68500674T>G , CM000677.1:g.68500674T>G	GRCh37
NC_000015.8:g.66287728T>G	NCBI36
NG_008764.2:g.53876A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.740A>C MANE Select	ENSP00000249806.5:p.His247Pro
ENST00000562767.2:c.84-10708A>C	ENSP00000456336.1:n.84-10708A>C
ENST00000565471.6:c.281A>C	ENSP00000457384.1:p.His94Pro
ENST00000635747.1:c.*643A>C	ENSP00000490627.1:n.*643A>C
ENST00000636212.1:c.*410A>C	ENSP00000489851.1:n.*410A>C
ENST00000636674.1:n.1842A>C
ENST00000636964.1:n.2268A>C
ENST00000637054.1:c.198+10200A>C	ENSP00000490807.1:n.198+10200A>C
ENST00000637329.1:c.709A>C
ENST00000637450.1:c.*394A>C	ENSP00000490204.1:n.*394A>C
ENST00000637494.1:c.452A>C	ENSP00000490057.1:p.His151Pro
ENST00000637667.1:c.641A>C	ENSP00000489843.1:p.His214Pro
ENST00000637823.1:c.565A>C
ENST00000637888.1:c.198+10200A>C	ENSP00000490546.1:n.198+10200A>C
ENST00000638076.1:c.*343A>C	ENSP00000490373.1:n.*343A>C
ENST00000638144.1:n.383A>C
ENST00000646164.1:c.39-8655A>C
ENST00000249806.9:c.740A>C	ENSP00000249806.5:p.His247Pro
ENST00000538696.5:c.836A>C	ENSP00000445770.1:p.His279Pro
ENST00000562767.1:c.84-10708A>C	ENSP00000456336.1:n.84-10708A>C
ENST00000564752.1:c.*124A>C	ENSP00000457822.1:n.*124A>C
ENST00000565471.5:c.281A>C	ENSP00000457384.1:p.His94Pro
ENST00000566347.5:c.551A>C	ENSP00000457783.1:p.His184Pro
ENST00000567060.5:c.*138A>C	ENSP00000454818.1:n.*138A>C
NM_017882.2:c.740A>C	NP_060352.1:p.His247Pro
NM_017882.3:c.740A>C MANE Select	NP_060352.1:p.His247Pro