Canonical Allele Identifier: CA701028138

Gene: CLN5 FBXL3

Linked Data

• dbSNP Id: rs1422442887
• gnomAD v4: 13-77001236-C-A
• MyVariant Identifiers: chr13:g.77575371C>A (hg19) ; chr13:g.77001236C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.77001236C>A , CM000675.2:g.77001236C>A	GRCh38
NC_000013.10:g.77575371C>A , CM000675.1:g.77575371C>A	GRCh37
NC_000013.9:g.76473372C>A	NCBI36
NG_009064.1:g.14313C>A , LRG_692:g.14313C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377453.9:c.*267C>A (CLN5) MANE Select	ENSP00000366673.5:n.*267C>A
ENST00000616833.6:c.*786C>A (CLN5)	ENSP00000479547.3:n.*786C>A
ENST00000635838.1:c.174+5109C>A
ENST00000635905.1:n.566+5109C>A (CLN5)
ENST00000635915.1:c.1342C>A (CLN5)
ENST00000636183.2:c.*267C>A (CLN5)	ENSP00000490181.2:n.*267C>A
ENST00000636525.2:c.565+5109C>A (CLN5)	ENSP00000490078.2:n.565+5109C>A
ENST00000636681.1:c.*1035C>A (CLN5)	ENSP00000489922.1:n.*1035C>A
ENST00000636705.1:c.1180C>A (CLN5)
ENST00000636767.2:c.565+5109C>A (CLN5)	ENSP00000489855.2:n.565+5109C>A
ENST00000636780.2:c.*793C>A (CLN5)	ENSP00000489809.2:n.*793C>A
ENST00000637192.1:c.213+5109C>A
ENST00000637278.1:n.1670C>A (CLN5)
ENST00000637397.2:c.565+5109C>A (CLN5)	ENSP00000490422.2:n.565+5109C>A
ENST00000638101.1:c.169+5109C>A	ENSP00000490535.1:n.169+5109C>A
ENST00000638147.2:c.565+5109C>A	ENSP00000490953.2:n.565+5109C>A
ENST00000377453.7:c.*267C>A (CLN5)	ENSP00000366673.3:n.*267C>A
ENST00000477982.2:n.1073G>T (FBXL3)
ENST00000485797.2:n.174-8285G>T (FBXL3)
ENST00000616833.4:c.*267C>A (CLN5)	ENSP00000479547.1:n.*267C>A
NM_006493.2:c.*267C>A , LRG_692t1:c.*267C>A (CLN5)	NP_006484.1:n.*267C>A
NM_001366624.1:c.*793C>A (CLN5)	NP_001353553.1:n.*793C>A
NM_006493.3:c.*267C>A (CLN5)	NP_006484.2:n.*267C>A
XM_017020538.2:c.644-8285G>T (FBXL3)	XP_016876027.1:n.644-8285G>T
NM_001366624.2:c.*793C>A (CLN5)	NP_001353553.1:n.*793C>A
NM_006493.4:c.*267C>A (CLN5) MANE Select	NP_006484.2:n.*267C>A