Canonical Allele Identifier: CA392972785

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68501979A>G (hg19) ; chr15:g.68209641A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209641A>G , CM000677.2:g.68209641A>G	GRCh38
NC_000015.9:g.68501979A>G , CM000677.1:g.68501979A>G	GRCh37
NC_000015.8:g.66289033A>G	NCBI36
NG_008764.2:g.52571T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.661T>C MANE Select	ENSP00000249806.5:p.Tyr221His
ENST00000562767.2:c.84-12013T>C	ENSP00000456336.1:n.84-12013T>C
ENST00000563917.2:n.503T>C
ENST00000565471.6:c.202T>C	ENSP00000457384.1:p.Tyr68His
ENST00000635747.1:c.*564T>C	ENSP00000490627.1:n.*564T>C
ENST00000636212.1:c.*331T>C	ENSP00000489851.1:n.*331T>C
ENST00000636674.1:n.1763T>C
ENST00000636964.1:n.2189T>C
ENST00000637054.1:c.198+8895T>C	ENSP00000490807.1:n.198+8895T>C
ENST00000637329.1:c.630T>C
ENST00000637450.1:c.*315T>C	ENSP00000490204.1:n.*315T>C
ENST00000637494.1:c.373T>C	ENSP00000490057.1:p.Tyr125His
ENST00000637667.1:c.562T>C	ENSP00000489843.1:p.Tyr188His
ENST00000637823.1:c.486T>C
ENST00000637888.1:c.198+8895T>C	ENSP00000490546.1:n.198+8895T>C
ENST00000638076.1:c.*264T>C	ENSP00000490373.1:n.*264T>C
ENST00000638144.1:n.304T>C
ENST00000646164.1:c.38+8895T>C
ENST00000249806.9:c.661T>C	ENSP00000249806.5:p.Tyr221His
ENST00000538696.5:c.757T>C	ENSP00000445770.1:p.Tyr253His
ENST00000562767.1:c.84-12013T>C	ENSP00000456336.1:n.84-12013T>C
ENST00000563917.1:n.561T>C
ENST00000564752.1:c.*45T>C	ENSP00000457822.1:n.*45T>C
ENST00000565471.5:c.202T>C	ENSP00000457384.1:p.Tyr68His
ENST00000566347.5:c.472T>C	ENSP00000457783.1:p.Tyr158His
ENST00000567060.5:c.*59T>C	ENSP00000454818.1:n.*59T>C
NM_017882.2:c.661T>C	NP_060352.1:p.Tyr221His
XR_931861.1:n.883T>C
NM_017882.3:c.661T>C MANE Select	NP_060352.1:p.Tyr221His