Canonical Allele Identifier: CA388311935

Linked Data

ClinVar Variation Id: 522601
dbSNP Id: rs1555274338

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.77000567G>A , CM000675.2:g.77000567G>A GRCh38
NC_000013.10:g.77574702G>A , CM000675.1:g.77574702G>A GRCh37
NC_000013.9:g.76472703G>A NCBI36
NG_009064.1:g.13644G>A , LRG_692:g.13644G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000377453.9:c.675G>A (CLN5) MANE Select ENSP00000366673.5:p.Trp225Ter
ENST00000616833.6:c.*117G>A (CLN5) ENSP00000479547.3:n.*117G>A
ENST00000635838.1:c.174+4440G>A
ENST00000635905.1:n.566+4440G>A (CLN5)
ENST00000635915.1:c.673G>A (CLN5)
ENST00000636183.2:c.675G>A (CLN5) ENSP00000490181.2:p.Trp225Ter
ENST00000636525.2:c.565+4440G>A (CLN5) ENSP00000490078.2:n.565+4440G>A
ENST00000636681.1:c.*366G>A (CLN5) ENSP00000489922.1:n.*366G>A
ENST00000636705.1:c.511G>A (CLN5)
ENST00000636767.2:c.565+4440G>A (CLN5) ENSP00000489855.2:n.565+4440G>A
ENST00000636780.2:c.*124G>A (CLN5) ENSP00000489809.2:n.*124G>A
ENST00000637192.1:c.213+4440G>A
ENST00000637278.1:n.1001G>A (CLN5)
ENST00000637397.2:c.565+4440G>A (CLN5) ENSP00000490422.2:n.565+4440G>A
ENST00000638101.1:c.169+4440G>A ENSP00000490535.1:n.169+4440G>A
ENST00000638147.2:c.565+4440G>A ENSP00000490953.2:n.565+4440G>A
ENST00000377453.7:c.822G>A (CLN5) ENSP00000366673.3:p.Trp274Ter
ENST00000477982.2:n.1742C>T (FBXL3)
ENST00000485797.2:n.174-7616C>T (FBXL3)
ENST00000616833.4:c.675G>A (CLN5) ENSP00000479547.1:p.Trp225Ter
NM_006493.2:c.822G>A , LRG_692t1:c.822G>A (CLN5) NP_006484.1:p.Trp274Ter
XM_011534917.1:c.*124G>A (CLN5) XP_011533219.1:n.*124G>A
NM_001366624.1:c.*124G>A (CLN5) NP_001353553.1:n.*124G>A
NM_006493.3:c.675G>A (CLN5) NP_006484.2:p.Trp225Ter
XM_017020538.2:c.644-7616C>T (FBXL3) XP_016876027.1:n.644-7616C>T
NM_001366624.2:c.*124G>A (CLN5) NP_001353553.1:n.*124G>A
NM_006493.4:c.675G>A (CLN5) MANE Select NP_006484.2:p.Trp225Ter