Canonical Allele Identifier: CA392973064

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68502095T>G (hg19) ; chr15:g.68209757T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209757T>G , CM000677.2:g.68209757T>G	GRCh38
NC_000015.9:g.68502095T>G , CM000677.1:g.68502095T>G	GRCh37
NC_000015.8:g.66289149T>G	NCBI36
NG_008764.2:g.52455A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.545A>C MANE Select	ENSP00000249806.5:p.Tyr182Ser
ENST00000562767.2:c.84-12129A>C	ENSP00000456336.1:n.84-12129A>C
ENST00000563917.2:n.387A>C
ENST00000565471.6:c.86A>C	ENSP00000457384.1:p.Tyr29Ser
ENST00000635747.1:c.*448A>C	ENSP00000490627.1:n.*448A>C
ENST00000636212.1:c.*215A>C	ENSP00000489851.1:n.*215A>C
ENST00000636314.1:c.241A>C	ENSP00000490295.1:p.Thr81Pro
ENST00000636674.1:n.1647A>C
ENST00000636964.1:n.2073A>C
ENST00000637054.1:c.198+8779A>C	ENSP00000490807.1:n.198+8779A>C
ENST00000637223.1:c.*259A>C	ENSP00000490010.1:n.*259A>C
ENST00000637329.1:c.514A>C
ENST00000637450.1:c.*199A>C	ENSP00000490204.1:n.*199A>C
ENST00000637494.1:c.257A>C	ENSP00000490057.1:p.Tyr86Ser
ENST00000637667.1:c.446A>C	ENSP00000489843.1:p.Tyr149Ser
ENST00000637823.1:c.370A>C
ENST00000637888.1:c.198+8779A>C	ENSP00000490546.1:n.198+8779A>C
ENST00000638076.1:c.*148A>C	ENSP00000490373.1:n.*148A>C
ENST00000638144.1:n.188A>C
ENST00000646164.1:c.38+8779A>C
ENST00000249806.9:c.545A>C	ENSP00000249806.5:p.Tyr182Ser
ENST00000538696.5:c.641A>C	ENSP00000445770.1:p.Tyr214Ser
ENST00000562767.1:c.84-12129A>C	ENSP00000456336.1:n.84-12129A>C
ENST00000563917.1:n.445A>C
ENST00000564752.1:c.571A>C	ENSP00000457822.1:p.Thr191Pro
ENST00000565471.5:c.86A>C	ENSP00000457384.1:p.Tyr29Ser
ENST00000566347.5:c.356A>C	ENSP00000457783.1:p.Tyr119Ser
ENST00000567060.5:c.298-37A>C	ENSP00000454818.1:n.298-37A>C
NM_017882.2:c.545A>C	NP_060352.1:p.Tyr182Ser
XR_931861.1:n.767A>C
NM_017882.3:c.545A>C MANE Select	NP_060352.1:p.Tyr182Ser