Canonical Allele Identifier: CA388305768

Gene: CLN5

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.76991998A>T , CM000675.2:g.76991998A>T	GRCh38
NC_000013.10:g.77566133A>T , CM000675.1:g.77566133A>T	GRCh37
NC_000013.9:g.76464134A>T	NCBI36
NG_009064.1:g.5075A>T , LRG_692:g.5075A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636183.2:c.-101A>T	ENSP00000490181.2:n.-101A>T
ENST00000377453.7:c.47A>T	ENSP00000366673.3:p.Gln16Leu
NM_006493.2:c.47A>T , LRG_692t1:c.47A>T	NP_006484.1:p.Gln16Leu
XM_011534917.1:c.47A>T	XP_011533219.1:p.Gln16Leu