Canonical Allele Identifier: CA392971523

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68500497T>G (hg19) ; chr15:g.68208159T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208159T>G , CM000677.2:g.68208159T>G	GRCh38
NC_000015.9:g.68500497T>G , CM000677.1:g.68500497T>G	GRCh37
NC_000015.8:g.66287551T>G	NCBI36
NG_008764.2:g.54053A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.917A>C MANE Select	ENSP00000249806.5:p.His306Pro
ENST00000562767.2:c.84-10531A>C	ENSP00000456336.1:n.84-10531A>C
ENST00000565471.6:c.458A>C	ENSP00000457384.1:p.His153Pro
ENST00000635747.1:c.*820A>C	ENSP00000490627.1:n.*820A>C
ENST00000636212.1:c.*587A>C	ENSP00000489851.1:n.*587A>C
ENST00000636964.1:n.2445A>C
ENST00000637054.1:c.198+10377A>C	ENSP00000490807.1:n.198+10377A>C
ENST00000637329.1:c.886A>C
ENST00000637494.1:c.629A>C	ENSP00000490057.1:p.His210Pro
ENST00000637888.1:c.198+10377A>C	ENSP00000490546.1:n.198+10377A>C
ENST00000638076.1:c.*520A>C	ENSP00000490373.1:n.*520A>C
ENST00000638144.1:n.560A>C
ENST00000646164.1:c.39-8478A>C
ENST00000249806.9:c.917A>C	ENSP00000249806.5:p.His306Pro
ENST00000538696.5:c.1013A>C	ENSP00000445770.1:p.His338Pro
ENST00000562767.1:c.84-10531A>C	ENSP00000456336.1:n.84-10531A>C
ENST00000565471.5:c.458A>C	ENSP00000457384.1:p.His153Pro
ENST00000566347.5:c.728A>C	ENSP00000457783.1:p.His243Pro
ENST00000567060.5:c.*315A>C	ENSP00000454818.1:n.*315A>C
NM_017882.2:c.917A>C	NP_060352.1:p.His306Pro
NM_017882.3:c.917A>C MANE Select	NP_060352.1:p.His306Pro