Canonical Allele Identifier: CA484334723

Gene: CLN5

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.76992167C>A , CM000675.2:g.76992167C>A	GRCh38
NC_000013.10:g.77566302C>A , CM000675.1:g.77566302C>A	GRCh37
NC_000013.9:g.76464303C>A	NCBI36
NG_009064.1:g.5244C>A , LRG_692:g.5244C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_006493.4:c.69C>A MANE Select	NP_006484.2:p.Arg23=
ENST00000377453.9:c.69C>A MANE Select	ENSP00000366673.5:p.Arg23=
NM_001366624.1:c.69C>A	NP_001353553.1:p.Arg23=
NM_001366624.2:c.69C>A	NP_001353553.1:p.Arg23=
NM_006493.2:c.216C>A , LRG_692t1:c.216C>A	NP_006484.1:p.Arg72=
NM_006493.3:c.69C>A	NP_006484.2:p.Arg23=
ENST00000377453.7:c.216C>A	ENSP00000366673.3:p.Arg72=
ENST00000485938.2:c.52C>A
ENST00000485938.4:c.69C>A	ENSP00000482959.3:p.Arg23=
ENST00000616833.4:c.69C>A	ENSP00000479547.1:p.Arg23=
ENST00000616833.6:c.69C>A	ENSP00000479547.3:p.Arg23=
ENST00000635905.1:n.70C>A
ENST00000635915.1:c.8C>A
ENST00000635989.1:n.79C>A
ENST00000636183.2:c.69C>A	ENSP00000490181.2:p.Arg23=
ENST00000636525.2:c.69C>A	ENSP00000490078.2:p.Arg23=
ENST00000636767.2:c.69C>A	ENSP00000489855.2:p.Arg23=
ENST00000636780.2:c.69C>A	ENSP00000489809.2:p.Arg23=
ENST00000637397.2:c.69C>A	ENSP00000490422.2:p.Arg23=
ENST00000637537.2:c.69C>A	ENSP00000489711.2:p.Arg23=
ENST00000638147.2:c.69C>A	ENSP00000490953.2:p.Arg23=
XM_011534917.1:c.216C>A	XP_011533219.1:p.Arg72=