Canonical Allele Identifier: CA392972281

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68500722A>G (hg19) ; chr15:g.68208384A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208384A>G , CM000677.2:g.68208384A>G	GRCh38
NC_000015.9:g.68500722A>G , CM000677.1:g.68500722A>G	GRCh37
NC_000015.8:g.66287776A>G	NCBI36
NG_008764.2:g.53828T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.692T>C MANE Select	ENSP00000249806.5:p.Phe231Ser
ENST00000562767.2:c.84-10756T>C	ENSP00000456336.1:n.84-10756T>C
ENST00000563917.2:n.534T>C
ENST00000565471.6:c.233T>C	ENSP00000457384.1:p.Phe78Ser
ENST00000635747.1:c.*595T>C	ENSP00000490627.1:n.*595T>C
ENST00000636212.1:c.*362T>C	ENSP00000489851.1:n.*362T>C
ENST00000636674.1:n.1794T>C
ENST00000636964.1:n.2220T>C
ENST00000637054.1:c.198+10152T>C	ENSP00000490807.1:n.198+10152T>C
ENST00000637329.1:c.661T>C
ENST00000637450.1:c.*346T>C	ENSP00000490204.1:n.*346T>C
ENST00000637494.1:c.404T>C	ENSP00000490057.1:p.Phe135Ser
ENST00000637667.1:c.593T>C	ENSP00000489843.1:p.Phe198Ser
ENST00000637823.1:c.517T>C
ENST00000637888.1:c.198+10152T>C	ENSP00000490546.1:n.198+10152T>C
ENST00000638076.1:c.*295T>C	ENSP00000490373.1:n.*295T>C
ENST00000638144.1:n.335T>C
ENST00000646164.1:c.39-8703T>C
ENST00000249806.9:c.692T>C	ENSP00000249806.5:p.Phe231Ser
ENST00000538696.5:c.788T>C	ENSP00000445770.1:p.Phe263Ser
ENST00000562767.1:c.84-10756T>C	ENSP00000456336.1:n.84-10756T>C
ENST00000564752.1:c.*76T>C	ENSP00000457822.1:n.*76T>C
ENST00000565471.5:c.233T>C	ENSP00000457384.1:p.Phe78Ser
ENST00000566347.5:c.503T>C	ENSP00000457783.1:p.Phe168Ser
ENST00000567060.5:c.*90T>C	ENSP00000454818.1:n.*90T>C
NM_017882.2:c.692T>C	NP_060352.1:p.Phe231Ser
NM_017882.3:c.692T>C MANE Select	NP_060352.1:p.Phe231Ser