Canonical Allele Identifier: CA388314059

Gene: CLN5 FBXL3

Linked Data

• dbSNP Id: rs1385771148
• gnomAD v2: 13-77574924-G-T
• gnomAD v4: 13-77000789-G-T
• MyVariant Identifiers: chr13:g.77574924G>T (hg19) ; chr13:g.77000789G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.77000789G>T , CM000675.2:g.77000789G>T	GRCh38
NC_000013.10:g.77574924G>T , CM000675.1:g.77574924G>T	GRCh37
NC_000013.9:g.76472925G>T	NCBI36
NG_009064.1:g.13866G>T , LRG_692:g.13866G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377453.9:c.897G>T (CLN5) MANE Select	ENSP00000366673.5:p.Leu299Phe
ENST00000616833.6:c.*339G>T (CLN5)	ENSP00000479547.3:n.*339G>T
ENST00000635838.1:c.174+4662G>T
ENST00000635905.1:n.566+4662G>T (CLN5)
ENST00000635915.1:c.895G>T (CLN5)
ENST00000636183.2:c.897G>T (CLN5)	ENSP00000490181.2:p.Leu299Phe
ENST00000636525.2:c.565+4662G>T (CLN5)	ENSP00000490078.2:n.565+4662G>T
ENST00000636681.1:c.*588G>T (CLN5)	ENSP00000489922.1:n.*588G>T
ENST00000636705.1:c.733G>T (CLN5)
ENST00000636767.2:c.565+4662G>T (CLN5)	ENSP00000489855.2:n.565+4662G>T
ENST00000636780.2:c.*346G>T (CLN5)	ENSP00000489809.2:n.*346G>T
ENST00000637192.1:c.213+4662G>T
ENST00000637278.1:n.1223G>T (CLN5)
ENST00000637397.2:c.565+4662G>T (CLN5)	ENSP00000490422.2:n.565+4662G>T
ENST00000638101.1:c.169+4662G>T	ENSP00000490535.1:n.169+4662G>T
ENST00000638147.2:c.565+4662G>T	ENSP00000490953.2:n.565+4662G>T
ENST00000377453.7:c.1044G>T (CLN5)	ENSP00000366673.3:p.Leu348Phe
ENST00000477982.2:n.1520C>A (FBXL3)
ENST00000485797.2:n.174-7838C>A (FBXL3)
ENST00000616833.4:c.897G>T (CLN5)	ENSP00000479547.1:p.Leu299Phe
NM_006493.2:c.1044G>T , LRG_692t1:c.1044G>T (CLN5)	NP_006484.1:p.Leu348Phe
XM_011534917.1:c.*346G>T (CLN5)	XP_011533219.1:n.*346G>T
NM_001366624.1:c.*346G>T (CLN5)	NP_001353553.1:n.*346G>T
NM_006493.3:c.897G>T (CLN5)	NP_006484.2:p.Leu299Phe
XM_017020538.2:c.644-7838C>A (FBXL3)	XP_016876027.1:n.644-7838C>A
NM_001366624.2:c.*346G>T (CLN5)	NP_001353553.1:n.*346G>T
NM_006493.4:c.897G>T (CLN5) MANE Select	NP_006484.2:p.Leu299Phe