Canonical Allele Identifier: CA392972971

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68502062A>G (hg19) ; chr15:g.68209724A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209724A>G , CM000677.2:g.68209724A>G	GRCh38
NC_000015.9:g.68502062A>G , CM000677.1:g.68502062A>G	GRCh37
NC_000015.8:g.66289116A>G	NCBI36
NG_008764.2:g.52488T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.578T>C MANE Select	ENSP00000249806.5:p.Phe193Ser
ENST00000562767.2:c.84-12096T>C	ENSP00000456336.1:n.84-12096T>C
ENST00000563917.2:n.420T>C
ENST00000565471.6:c.119T>C	ENSP00000457384.1:p.Phe40Ser
ENST00000635747.1:c.*481T>C	ENSP00000490627.1:n.*481T>C
ENST00000636212.1:c.*248T>C	ENSP00000489851.1:n.*248T>C
ENST00000636314.1:c.274T>C	ENSP00000490295.1:p.Ser92Pro
ENST00000636674.1:n.1680T>C
ENST00000636964.1:n.2106T>C
ENST00000637054.1:c.198+8812T>C	ENSP00000490807.1:n.198+8812T>C
ENST00000637223.1:c.*292T>C	ENSP00000490010.1:n.*292T>C
ENST00000637329.1:c.547T>C
ENST00000637450.1:c.*232T>C	ENSP00000490204.1:n.*232T>C
ENST00000637494.1:c.290T>C	ENSP00000490057.1:p.Phe97Ser
ENST00000637667.1:c.479T>C	ENSP00000489843.1:p.Phe160Ser
ENST00000637823.1:c.403T>C
ENST00000637888.1:c.198+8812T>C	ENSP00000490546.1:n.198+8812T>C
ENST00000638076.1:c.*181T>C	ENSP00000490373.1:n.*181T>C
ENST00000638144.1:n.221T>C
ENST00000646164.1:c.38+8812T>C
ENST00000249806.9:c.578T>C	ENSP00000249806.5:p.Phe193Ser
ENST00000538696.5:c.674T>C	ENSP00000445770.1:p.Phe225Ser
ENST00000562767.1:c.84-12096T>C	ENSP00000456336.1:n.84-12096T>C
ENST00000563917.1:n.478T>C
ENST00000564752.1:c.604T>C	ENSP00000457822.1:p.Ser202Pro
ENST00000565471.5:c.119T>C	ENSP00000457384.1:p.Phe40Ser
ENST00000566347.5:c.389T>C	ENSP00000457783.1:p.Phe130Ser
ENST00000567060.5:c.298-4T>C	ENSP00000454818.1:n.298-4T>C
NM_017882.2:c.578T>C	NP_060352.1:p.Phe193Ser
XR_931861.1:n.800T>C
NM_017882.3:c.578T>C MANE Select	NP_060352.1:p.Phe193Ser