Canonical Allele Identifier: CA263873

Linked Data

ClinVar Variation Id: 56525
ClinVar RCV Id: RCV000049938
dbSNP Id: rs386833963

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.77000771C>A , CM000675.2:g.77000771C>A GRCh38
NC_000013.10:g.77574906C>A , CM000675.1:g.77574906C>A GRCh37
NC_000013.9:g.76472907C>A NCBI36
NG_009064.1:g.13848C>A , LRG_692:g.13848C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000377453.9:c.879C>A (CLN5) MANE Select ENSP00000366673.5:p.Tyr293Ter
ENST00000616833.6:c.*321C>A (CLN5) ENSP00000479547.3:n.*321C>A
ENST00000635838.1:c.174+4644C>A
ENST00000635905.1:n.566+4644C>A (CLN5)
ENST00000635915.1:c.877C>A (CLN5)
ENST00000636183.2:c.879C>A (CLN5) ENSP00000490181.2:p.Tyr293Ter
ENST00000636525.2:c.565+4644C>A (CLN5) ENSP00000490078.2:n.565+4644C>A
ENST00000636681.1:c.*570C>A (CLN5) ENSP00000489922.1:n.*570C>A
ENST00000636705.1:c.715C>A (CLN5)
ENST00000636767.2:c.565+4644C>A (CLN5) ENSP00000489855.2:n.565+4644C>A
ENST00000636780.2:c.*328C>A (CLN5) ENSP00000489809.2:n.*328C>A
ENST00000637192.1:c.213+4644C>A
ENST00000637278.1:n.1205C>A (CLN5)
ENST00000637397.2:c.565+4644C>A (CLN5) ENSP00000490422.2:n.565+4644C>A
ENST00000638101.1:c.169+4644C>A ENSP00000490535.1:n.169+4644C>A
ENST00000638147.2:c.565+4644C>A ENSP00000490953.2:n.565+4644C>A
ENST00000377453.7:c.1026C>A (CLN5) ENSP00000366673.3:p.Tyr342Ter
ENST00000477982.2:n.1538G>T (FBXL3)
ENST00000485797.2:n.174-7820G>T (FBXL3)
ENST00000616833.4:c.879C>A (CLN5) ENSP00000479547.1:p.Tyr293Ter
NM_006493.2:c.1026C>A , LRG_692t1:c.1026C>A (CLN5) NP_006484.1:p.Tyr342Ter
XM_011534917.1:c.*328C>A (CLN5) XP_011533219.1:n.*328C>A
NM_001366624.1:c.*328C>A (CLN5) NP_001353553.1:n.*328C>A
NM_006493.3:c.879C>A (CLN5) NP_006484.2:p.Tyr293Ter
XM_017020538.2:c.644-7820G>T (FBXL3) XP_016876027.1:n.644-7820G>T
NM_001366624.2:c.*328C>A (CLN5) NP_001353553.1:n.*328C>A
NM_006493.4:c.879C>A (CLN5) MANE Select NP_006484.2:p.Tyr293Ter