Canonical Allele Identifier: CA392973114

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68503611G>T (hg19) ; chr15:g.68211273G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211273G>T , CM000677.2:g.68211273G>T	GRCh38
NC_000015.9:g.68503611G>T , CM000677.1:g.68503611G>T	GRCh37
NC_000015.8:g.66290665G>T	NCBI36
NG_008764.2:g.50939C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.532C>A MANE Select	ENSP00000249806.5:p.His178Asn
ENST00000562767.2:c.84-13645C>A	ENSP00000456336.1:n.84-13645C>A
ENST00000563917.2:n.374C>A
ENST00000565471.6:c.84-1514C>A	ENSP00000457384.1:n.84-1514C>A
ENST00000635747.1:c.*435C>A	ENSP00000490627.1:n.*435C>A
ENST00000636212.1:c.*202C>A	ENSP00000489851.1:n.*202C>A
ENST00000636314.1:c.228C>A	ENSP00000490295.1:p.Val76=
ENST00000636674.1:n.1634C>A
ENST00000636964.1:n.2060C>A
ENST00000637054.1:c.198+7263C>A	ENSP00000490807.1:n.198+7263C>A
ENST00000637223.1:c.*246C>A	ENSP00000490010.1:n.*246C>A
ENST00000637329.1:c.501C>A
ENST00000637450.1:c.*186C>A	ENSP00000490204.1:n.*186C>A
ENST00000637494.1:c.244C>A	ENSP00000490057.1:p.His82Asn
ENST00000637667.1:c.433C>A	ENSP00000489843.1:p.His145Asn
ENST00000637823.1:c.357C>A
ENST00000637888.1:c.198+7263C>A	ENSP00000490546.1:n.198+7263C>A
ENST00000638076.1:c.*135C>A	ENSP00000490373.1:n.*135C>A
ENST00000638144.1:n.175C>A
ENST00000646164.1:c.38+7263C>A
ENST00000249806.9:c.532C>A	ENSP00000249806.5:p.His178Asn
ENST00000538696.5:c.628C>A	ENSP00000445770.1:p.His210Asn
ENST00000562767.1:c.84-13645C>A	ENSP00000456336.1:n.84-13645C>A
ENST00000563917.1:n.432C>A
ENST00000564752.1:c.558C>A	ENSP00000457822.1:p.Val186=
ENST00000565471.5:c.84-1514C>A	ENSP00000457384.1:n.84-1514C>A
ENST00000566347.5:c.343C>A	ENSP00000457783.1:p.His115Asn
ENST00000567060.5:c.298-1553C>A	ENSP00000454818.1:n.298-1553C>A
NM_017882.2:c.532C>A	NP_060352.1:p.His178Asn
XR_931861.1:n.754C>A
NM_017882.3:c.532C>A MANE Select	NP_060352.1:p.His178Asn