Canonical Allele Identifier: CA392972211

Gene: CLN6

Linked Data

• ClinVar Variation Id: 1757040
• ClinVar RCV Id: RCV002365131
• gnomAD v4: 15-68208369-A-G
• MyVariant Identifiers: chr15:g.68500707A>G (hg19) ; chr15:g.68208369A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208369A>G , CM000677.2:g.68208369A>G	GRCh38
NC_000015.9:g.68500707A>G , CM000677.1:g.68500707A>G	GRCh37
NC_000015.8:g.66287761A>G	NCBI36
NG_008764.2:g.53843T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.707T>C MANE Select	ENSP00000249806.5:p.Phe236Ser
ENST00000562767.2:c.84-10741T>C	ENSP00000456336.1:n.84-10741T>C
ENST00000563917.2:n.549T>C
ENST00000565471.6:c.248T>C	ENSP00000457384.1:p.Phe83Ser
ENST00000635747.1:c.*610T>C	ENSP00000490627.1:n.*610T>C
ENST00000636212.1:c.*377T>C	ENSP00000489851.1:n.*377T>C
ENST00000636674.1:n.1809T>C
ENST00000636964.1:n.2235T>C
ENST00000637054.1:c.198+10167T>C	ENSP00000490807.1:n.198+10167T>C
ENST00000637329.1:c.676T>C
ENST00000637450.1:c.*361T>C	ENSP00000490204.1:n.*361T>C
ENST00000637494.1:c.419T>C	ENSP00000490057.1:p.Phe140Ser
ENST00000637667.1:c.608T>C	ENSP00000489843.1:p.Phe203Ser
ENST00000637823.1:c.532T>C
ENST00000637888.1:c.198+10167T>C	ENSP00000490546.1:n.198+10167T>C
ENST00000638076.1:c.*310T>C	ENSP00000490373.1:n.*310T>C
ENST00000638144.1:n.350T>C
ENST00000646164.1:c.39-8688T>C
ENST00000249806.9:c.707T>C	ENSP00000249806.5:p.Phe236Ser
ENST00000538696.5:c.803T>C	ENSP00000445770.1:p.Phe268Ser
ENST00000562767.1:c.84-10741T>C	ENSP00000456336.1:n.84-10741T>C
ENST00000564752.1:c.*91T>C	ENSP00000457822.1:n.*91T>C
ENST00000565471.5:c.248T>C	ENSP00000457384.1:p.Phe83Ser
ENST00000566347.5:c.518T>C	ENSP00000457783.1:p.Phe173Ser
ENST00000567060.5:c.*105T>C	ENSP00000454818.1:n.*105T>C
NM_017882.2:c.707T>C	NP_060352.1:p.Phe236Ser
NM_017882.3:c.707T>C MANE Select	NP_060352.1:p.Phe236Ser