Canonical Allele Identifier: CA392972363

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68500738T>A (hg19) ; chr15:g.68208400T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208400T>A , CM000677.2:g.68208400T>A	GRCh38
NC_000015.9:g.68500738T>A , CM000677.1:g.68500738T>A	GRCh37
NC_000015.8:g.66287792T>A	NCBI36
NG_008764.2:g.53812A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.676A>T MANE Select	ENSP00000249806.5:p.Thr226Ser
ENST00000562767.2:c.84-10772A>T	ENSP00000456336.1:n.84-10772A>T
ENST00000563917.2:n.518A>T
ENST00000565471.6:c.217A>T	ENSP00000457384.1:p.Thr73Ser
ENST00000635747.1:c.*579A>T	ENSP00000490627.1:n.*579A>T
ENST00000636212.1:c.*346A>T	ENSP00000489851.1:n.*346A>T
ENST00000636674.1:n.1778A>T
ENST00000636964.1:n.2204A>T
ENST00000637054.1:c.198+10136A>T	ENSP00000490807.1:n.198+10136A>T
ENST00000637329.1:c.645A>T
ENST00000637450.1:c.*330A>T	ENSP00000490204.1:n.*330A>T
ENST00000637494.1:c.388A>T	ENSP00000490057.1:p.Thr130Ser
ENST00000637667.1:c.577A>T	ENSP00000489843.1:p.Thr193Ser
ENST00000637823.1:c.501A>T
ENST00000637888.1:c.198+10136A>T	ENSP00000490546.1:n.198+10136A>T
ENST00000638076.1:c.*279A>T	ENSP00000490373.1:n.*279A>T
ENST00000638144.1:n.319A>T
ENST00000646164.1:c.39-8719A>T
ENST00000249806.9:c.676A>T	ENSP00000249806.5:p.Thr226Ser
ENST00000538696.5:c.772A>T	ENSP00000445770.1:p.Thr258Ser
ENST00000562767.1:c.84-10772A>T	ENSP00000456336.1:n.84-10772A>T
ENST00000564752.1:c.*60A>T	ENSP00000457822.1:n.*60A>T
ENST00000565471.5:c.217A>T	ENSP00000457384.1:p.Thr73Ser
ENST00000566347.5:c.487A>T	ENSP00000457783.1:p.Thr163Ser
ENST00000567060.5:c.*74A>T	ENSP00000454818.1:n.*74A>T
NM_017882.2:c.676A>T	NP_060352.1:p.Thr226Ser
XR_931861.1:n.898A>T
NM_017882.3:c.676A>T MANE Select	NP_060352.1:p.Thr226Ser