Canonical Allele Identifier: CA388306103

Gene: CLN5

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.76992078G>C , CM000675.2:g.76992078G>C	GRCh38
NC_000013.10:g.77566213G>C , CM000675.1:g.77566213G>C	GRCh37
NC_000013.9:g.76464214G>C	NCBI36
NG_009064.1:g.5155G>C , LRG_692:g.5155G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_006493.2:c.127G>C , LRG_692t1:c.127G>C	NP_006484.1:p.Gly43Arg
ENST00000377453.7:c.127G>C	ENSP00000366673.3:p.Gly43Arg
ENST00000485938.4:c.-21G>C	ENSP00000482959.3:n.-21G>C
ENST00000636183.2:c.-21G>C	ENSP00000490181.2:n.-21G>C
ENST00000636780.2:c.-21G>C	ENSP00000489809.2:n.-21G>C
ENST00000637537.2:c.-21G>C	ENSP00000489711.2:n.-21G>C
ENST00000638147.2:c.-21G>C	ENSP00000490953.2:n.-21G>C
XM_011534917.1:c.127G>C	XP_011533219.1:p.Gly43Arg