Canonical Allele Identifier: CA388305750

Gene: CLN5

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636183.2:c.-104C>T	ENSP00000490181.2:n.-104C>T
ENST00000377453.7:c.44C>T	ENSP00000366673.3:p.Ala15Val
NM_006493.2:c.44C>T , LRG_692t1:c.44C>T	NP_006484.1:p.Ala15Val
XM_011534917.1:c.44C>T	XP_011533219.1:p.Ala15Val