Canonical Allele Identifier: CA392972228

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68500711T>A (hg19) ; chr15:g.68208373T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208373T>A , CM000677.2:g.68208373T>A	GRCh38
NC_000015.9:g.68500711T>A , CM000677.1:g.68500711T>A	GRCh37
NC_000015.8:g.66287765T>A	NCBI36
NG_008764.2:g.53839A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.703A>T MANE Select	ENSP00000249806.5:p.Ile235Phe
ENST00000562767.2:c.84-10745A>T	ENSP00000456336.1:n.84-10745A>T
ENST00000563917.2:n.545A>T
ENST00000565471.6:c.244A>T	ENSP00000457384.1:p.Ile82Phe
ENST00000635747.1:c.*606A>T	ENSP00000490627.1:n.*606A>T
ENST00000636212.1:c.*373A>T	ENSP00000489851.1:n.*373A>T
ENST00000636674.1:n.1805A>T
ENST00000636964.1:n.2231A>T
ENST00000637054.1:c.198+10163A>T	ENSP00000490807.1:n.198+10163A>T
ENST00000637329.1:c.672A>T
ENST00000637450.1:c.*357A>T	ENSP00000490204.1:n.*357A>T
ENST00000637494.1:c.415A>T	ENSP00000490057.1:p.Ile139Phe
ENST00000637667.1:c.604A>T	ENSP00000489843.1:p.Ile202Phe
ENST00000637823.1:c.528A>T
ENST00000637888.1:c.198+10163A>T	ENSP00000490546.1:n.198+10163A>T
ENST00000638076.1:c.*306A>T	ENSP00000490373.1:n.*306A>T
ENST00000638144.1:n.346A>T
ENST00000646164.1:c.39-8692A>T
ENST00000249806.9:c.703A>T	ENSP00000249806.5:p.Ile235Phe
ENST00000538696.5:c.799A>T	ENSP00000445770.1:p.Ile267Phe
ENST00000562767.1:c.84-10745A>T	ENSP00000456336.1:n.84-10745A>T
ENST00000564752.1:c.*87A>T	ENSP00000457822.1:n.*87A>T
ENST00000565471.5:c.244A>T	ENSP00000457384.1:p.Ile82Phe
ENST00000566347.5:c.514A>T	ENSP00000457783.1:p.Ile172Phe
ENST00000567060.5:c.*101A>T	ENSP00000454818.1:n.*101A>T
NM_017882.2:c.703A>T	NP_060352.1:p.Ile235Phe
NM_017882.3:c.703A>T MANE Select	NP_060352.1:p.Ile235Phe