Canonical Allele Identifier: CA490911600

Gene: CLN6

Linked Data

• gnomAD v4: 15-68209675-A-G
• MyVariant Identifiers: chr15:g.68502013A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209675A>G , CM000677.2:g.68209675A>G	GRCh38
NC_000015.9:g.68502013A>G , CM000677.1:g.68502013A>G	GRCh37
NC_000015.8:g.66289067A>G	NCBI36
NG_008764.2:g.52537T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.627T>C MANE Select	ENSP00000249806.5:p.Pro209=
ENST00000562767.2:c.84-12047T>C	ENSP00000456336.1:n.84-12047T>C
ENST00000563917.2:n.469T>C
ENST00000565471.6:c.168T>C	ENSP00000457384.1:p.Pro56=
ENST00000635747.1:c.*530T>C	ENSP00000490627.1:n.*530T>C
ENST00000636212.1:c.*297T>C	ENSP00000489851.1:n.*297T>C
ENST00000636314.1:c.*11T>C	ENSP00000490295.1:n.*11T>C
ENST00000636674.1:n.1729T>C
ENST00000636964.1:n.2155T>C
ENST00000637054.1:c.198+8861T>C	ENSP00000490807.1:n.198+8861T>C
ENST00000637329.1:c.596T>C
ENST00000637450.1:c.*281T>C	ENSP00000490204.1:n.*281T>C
ENST00000637494.1:c.339T>C	ENSP00000490057.1:p.Pro113=
ENST00000637667.1:c.528T>C	ENSP00000489843.1:p.Pro176=
ENST00000637823.1:c.452T>C
ENST00000637888.1:c.198+8861T>C	ENSP00000490546.1:n.198+8861T>C
ENST00000638076.1:c.*230T>C	ENSP00000490373.1:n.*230T>C
ENST00000638144.1:n.270T>C
ENST00000646164.1:c.38+8861T>C
ENST00000249806.9:c.627T>C	ENSP00000249806.5:p.Pro209=
ENST00000538696.5:c.723T>C	ENSP00000445770.1:p.Pro241=
ENST00000562767.1:c.84-12047T>C	ENSP00000456336.1:n.84-12047T>C
ENST00000563917.1:n.527T>C
ENST00000564752.1:c.*11T>C	ENSP00000457822.1:n.*11T>C
ENST00000565471.5:c.168T>C	ENSP00000457384.1:p.Pro56=
ENST00000566347.5:c.438T>C	ENSP00000457783.1:p.Pro146=
ENST00000567060.5:c.*25T>C	ENSP00000454818.1:n.*25T>C
NM_017882.2:c.627T>C	NP_060352.1:p.Pro209=
XR_931861.1:n.849T>C
NM_017882.3:c.627T>C MANE Select	NP_060352.1:p.Pro209=