Canonical Allele Identifier: CA388305751

Gene: CLN5

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.76991995C>A , CM000675.2:g.76991995C>A	GRCh38
NC_000013.10:g.77566130C>A , CM000675.1:g.77566130C>A	GRCh37
NC_000013.9:g.76464131C>A	NCBI36
NG_009064.1:g.5072C>A , LRG_692:g.5072C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636183.2:c.-104C>A	ENSP00000490181.2:n.-104C>A
ENST00000377453.7:c.44C>A	ENSP00000366673.3:p.Ala15Glu
NM_006493.2:c.44C>A , LRG_692t1:c.44C>A	NP_006484.1:p.Ala15Glu
XM_011534917.1:c.44C>A	XP_011533219.1:p.Ala15Glu