Canonical Allele Identifier: CA388305793

Gene: CLN5

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.76992003C>G , CM000675.2:g.76992003C>G	GRCh38
NC_000013.10:g.77566138C>G , CM000675.1:g.77566138C>G	GRCh37
NC_000013.9:g.76464139C>G	NCBI36
NG_009064.1:g.5080C>G , LRG_692:g.5080C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636183.2:c.-96C>G	ENSP00000490181.2:n.-96C>G
ENST00000377453.7:c.52C>G	ENSP00000366673.3:p.Gln18Glu
NM_006493.2:c.52C>G , LRG_692t1:c.52C>G	NP_006484.1:p.Gln18Glu
XM_011534917.1:c.52C>G	XP_011533219.1:p.Gln18Glu