Canonical Allele Identifier: CA701028054

Gene: CLN5 FBXL3

Linked Data

• dbSNP Id: rs1157616020
• gnomAD v3: 13-77001158-T-C
• gnomAD v4: 13-77001158-T-C
• MyVariant Identifiers: chr13:g.77575293T>C (hg19) ; chr13:g.77001158T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.77001158T>C , CM000675.2:g.77001158T>C	GRCh38
NC_000013.10:g.77575293T>C , CM000675.1:g.77575293T>C	GRCh37
NC_000013.9:g.76473294T>C	NCBI36
NG_009064.1:g.14235T>C , LRG_692:g.14235T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377453.9:c.*189T>C (CLN5) MANE Select	ENSP00000366673.5:n.*189T>C
ENST00000616833.6:c.*708T>C (CLN5)	ENSP00000479547.3:n.*708T>C
ENST00000635838.1:c.174+5031T>C
ENST00000635905.1:n.566+5031T>C (CLN5)
ENST00000635915.1:c.1264T>C (CLN5)
ENST00000636183.2:c.*189T>C (CLN5)	ENSP00000490181.2:n.*189T>C
ENST00000636525.2:c.565+5031T>C (CLN5)	ENSP00000490078.2:n.565+5031T>C
ENST00000636681.1:c.*957T>C (CLN5)	ENSP00000489922.1:n.*957T>C
ENST00000636705.1:c.1102T>C (CLN5)
ENST00000636767.2:c.565+5031T>C (CLN5)	ENSP00000489855.2:n.565+5031T>C
ENST00000636780.2:c.*715T>C (CLN5)	ENSP00000489809.2:n.*715T>C
ENST00000637192.1:c.213+5031T>C
ENST00000637278.1:n.1592T>C (CLN5)
ENST00000637397.2:c.565+5031T>C (CLN5)	ENSP00000490422.2:n.565+5031T>C
ENST00000638101.1:c.169+5031T>C	ENSP00000490535.1:n.169+5031T>C
ENST00000638147.2:c.565+5031T>C	ENSP00000490953.2:n.565+5031T>C
ENST00000377453.7:c.*189T>C (CLN5)	ENSP00000366673.3:n.*189T>C
ENST00000477982.2:n.1151A>G (FBXL3)
ENST00000485797.2:n.174-8207A>G (FBXL3)
ENST00000616833.4:c.*189T>C (CLN5)	ENSP00000479547.1:n.*189T>C
NM_006493.2:c.*189T>C , LRG_692t1:c.*189T>C (CLN5)	NP_006484.1:n.*189T>C
NM_001366624.1:c.*715T>C (CLN5)	NP_001353553.1:n.*715T>C
NM_006493.3:c.*189T>C (CLN5)	NP_006484.2:n.*189T>C
XM_017020538.2:c.644-8207A>G (FBXL3)	XP_016876027.1:n.644-8207A>G
NM_001366624.2:c.*715T>C (CLN5)	NP_001353553.1:n.*715T>C
NM_006493.4:c.*189T>C (CLN5) MANE Select	NP_006484.2:n.*189T>C