Canonical Allele Identifier: CA388306183

Gene: CLN5

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.76992097T>C , CM000675.2:g.76992097T>C	GRCh38
NC_000013.10:g.77566232T>C , CM000675.1:g.77566232T>C	GRCh37
NC_000013.9:g.76464233T>C	NCBI36
NG_009064.1:g.5174T>C , LRG_692:g.5174T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377453.9:c.-2T>C MANE Select	ENSP00000366673.5:n.-2T>C
ENST00000485938.4:c.-2T>C	ENSP00000482959.3:n.-2T>C
ENST00000616833.6:c.-2T>C	ENSP00000479547.3:n.-2T>C
ENST00000635989.1:n.9T>C
ENST00000636183.2:c.-2T>C	ENSP00000490181.2:n.-2T>C
ENST00000636525.2:c.-2T>C	ENSP00000490078.2:n.-2T>C
ENST00000636780.2:c.-2T>C	ENSP00000489809.2:n.-2T>C
ENST00000637397.2:c.-2T>C	ENSP00000490422.2:n.-2T>C
ENST00000637537.2:c.-2T>C	ENSP00000489711.2:n.-2T>C
ENST00000638147.2:c.-2T>C	ENSP00000490953.2:n.-2T>C
ENST00000377453.7:c.146T>C	ENSP00000366673.3:p.Leu49Pro
ENST00000616833.4:c.-2T>C	ENSP00000479547.1:n.-2T>C
NM_006493.2:c.146T>C , LRG_692t1:c.146T>C	NP_006484.1:p.Leu49Pro
XM_011534917.1:c.146T>C	XP_011533219.1:p.Leu49Pro
NM_001366624.1:c.-2T>C	NP_001353553.1:n.-2T>C
NM_006493.3:c.-2T>C	NP_006484.2:n.-2T>C
NM_001366624.2:c.-2T>C	NP_001353553.1:n.-2T>C
NM_006493.4:c.-2T>C MANE Select	NP_006484.2:n.-2T>C