Canonical Allele Identifier: CA611398142

Gene: CLN5 FBXL3

Linked Data

• dbSNP Id: rs1282252919
• gnomAD v2: 13-77575339-C-T
• gnomAD v3: 13-77001204-C-T
• gnomAD v4: 13-77001204-C-T
• MyVariant Identifiers: chr13:g.77575339C>T (hg19) ; chr13:g.77001204C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.77001204C>T , CM000675.2:g.77001204C>T	GRCh38
NC_000013.10:g.77575339C>T , CM000675.1:g.77575339C>T	GRCh37
NC_000013.9:g.76473340C>T	NCBI36
NG_009064.1:g.14281C>T , LRG_692:g.14281C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377453.9:c.*235C>T (CLN5) MANE Select	ENSP00000366673.5:n.*235C>T
ENST00000616833.6:c.*754C>T (CLN5)	ENSP00000479547.3:n.*754C>T
ENST00000635838.1:c.174+5077C>T
ENST00000635905.1:n.566+5077C>T (CLN5)
ENST00000635915.1:c.1310C>T (CLN5)
ENST00000636183.2:c.*235C>T (CLN5)	ENSP00000490181.2:n.*235C>T
ENST00000636525.2:c.565+5077C>T (CLN5)	ENSP00000490078.2:n.565+5077C>T
ENST00000636681.1:c.*1003C>T (CLN5)	ENSP00000489922.1:n.*1003C>T
ENST00000636705.1:c.1148C>T (CLN5)
ENST00000636767.2:c.565+5077C>T (CLN5)	ENSP00000489855.2:n.565+5077C>T
ENST00000636780.2:c.*761C>T (CLN5)	ENSP00000489809.2:n.*761C>T
ENST00000637192.1:c.213+5077C>T
ENST00000637278.1:n.1638C>T (CLN5)
ENST00000637397.2:c.565+5077C>T (CLN5)	ENSP00000490422.2:n.565+5077C>T
ENST00000638101.1:c.169+5077C>T	ENSP00000490535.1:n.169+5077C>T
ENST00000638147.2:c.565+5077C>T	ENSP00000490953.2:n.565+5077C>T
ENST00000377453.7:c.*235C>T (CLN5)	ENSP00000366673.3:n.*235C>T
ENST00000477982.2:n.1105G>A (FBXL3)
ENST00000485797.2:n.174-8253G>A (FBXL3)
ENST00000616833.4:c.*235C>T (CLN5)	ENSP00000479547.1:n.*235C>T
NM_006493.2:c.*235C>T , LRG_692t1:c.*235C>T (CLN5)	NP_006484.1:n.*235C>T
NM_001366624.1:c.*761C>T (CLN5)	NP_001353553.1:n.*761C>T
NM_006493.3:c.*235C>T (CLN5)	NP_006484.2:n.*235C>T
XM_017020538.2:c.644-8253G>A (FBXL3)	XP_016876027.1:n.644-8253G>A
NM_001366624.2:c.*761C>T (CLN5)	NP_001353553.1:n.*761C>T
NM_006493.4:c.*235C>T (CLN5) MANE Select	NP_006484.2:n.*235C>T