Canonical Allele Identifier: CA388305764

Gene: CLN5

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636183.2:c.-101A>C	ENSP00000490181.2:n.-101A>C
ENST00000377453.7:c.47A>C	ENSP00000366673.3:p.Gln16Pro
NM_006493.2:c.47A>C , LRG_692t1:c.47A>C	NP_006484.1:p.Gln16Pro
XM_011534917.1:c.47A>C	XP_011533219.1:p.Gln16Pro