Canonical Allele Identifier: CA392972055

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68500670C>G (hg19) ; chr15:g.68208332C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208332C>G , CM000677.2:g.68208332C>G	GRCh38
NC_000015.9:g.68500670C>G , CM000677.1:g.68500670C>G	GRCh37
NC_000015.8:g.66287724C>G	NCBI36
NG_008764.2:g.53880G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.744G>C MANE Select	ENSP00000249806.5:p.Gln248His
ENST00000562767.2:c.84-10704G>C	ENSP00000456336.1:n.84-10704G>C
ENST00000565471.6:c.285G>C	ENSP00000457384.1:p.Gln95His
ENST00000635747.1:c.*647G>C	ENSP00000490627.1:n.*647G>C
ENST00000636212.1:c.*414G>C	ENSP00000489851.1:n.*414G>C
ENST00000636674.1:n.1846G>C
ENST00000636964.1:n.2272G>C
ENST00000637054.1:c.198+10204G>C	ENSP00000490807.1:n.198+10204G>C
ENST00000637329.1:c.713G>C
ENST00000637450.1:c.*398G>C	ENSP00000490204.1:n.*398G>C
ENST00000637494.1:c.456G>C	ENSP00000490057.1:p.Gln152His
ENST00000637667.1:c.645G>C	ENSP00000489843.1:p.Gln215His
ENST00000637823.1:c.569G>C
ENST00000637888.1:c.198+10204G>C	ENSP00000490546.1:n.198+10204G>C
ENST00000638076.1:c.*347G>C	ENSP00000490373.1:n.*347G>C
ENST00000638144.1:n.387G>C
ENST00000646164.1:c.39-8651G>C
ENST00000249806.9:c.744G>C	ENSP00000249806.5:p.Gln248His
ENST00000538696.5:c.840G>C	ENSP00000445770.1:p.Gln280His
ENST00000562767.1:c.84-10704G>C	ENSP00000456336.1:n.84-10704G>C
ENST00000564752.1:c.*128G>C	ENSP00000457822.1:n.*128G>C
ENST00000565471.5:c.285G>C	ENSP00000457384.1:p.Gln95His
ENST00000566347.5:c.555G>C	ENSP00000457783.1:p.Gln185His
ENST00000567060.5:c.*142G>C	ENSP00000454818.1:n.*142G>C
NM_017882.2:c.744G>C	NP_060352.1:p.Gln248His
NM_017882.3:c.744G>C MANE Select	NP_060352.1:p.Gln248His