Canonical Allele Identifier: CA701026344

Linked Data

dbSNP Id: rs1435702219

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.77000321G>C , CM000675.2:g.77000321G>C GRCh38
NC_000013.10:g.77574456G>C , CM000675.1:g.77574456G>C GRCh37
NC_000013.9:g.76472457G>C NCBI36
NG_009064.1:g.13398G>C , LRG_692:g.13398G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000377453.9:c.566-137G>C (CLN5) MANE Select ENSP00000366673.5:n.566-137G>C
ENST00000616833.6:c.*8-137G>C (CLN5) ENSP00000479547.3:n.*8-137G>C
ENST00000635761.1:n.487G>C (CLN5)
ENST00000635838.1:c.174+4194G>C
ENST00000635905.1:n.566+4194G>C (CLN5)
ENST00000635915.1:c.564-137G>C (CLN5)
ENST00000636183.2:c.566-137G>C (CLN5) ENSP00000490181.2:n.566-137G>C
ENST00000636525.2:c.565+4194G>C (CLN5) ENSP00000490078.2:n.565+4194G>C
ENST00000636681.1:c.*257-137G>C (CLN5) ENSP00000489922.1:n.*257-137G>C
ENST00000636705.1:c.402-137G>C (CLN5)
ENST00000636767.2:c.565+4194G>C (CLN5) ENSP00000489855.2:n.565+4194G>C
ENST00000636780.2:c.*15-137G>C (CLN5) ENSP00000489809.2:n.*15-137G>C
ENST00000637192.1:c.213+4194G>C
ENST00000637278.1:n.892-137G>C (CLN5)
ENST00000637397.2:c.565+4194G>C (CLN5) ENSP00000490422.2:n.565+4194G>C
ENST00000638101.1:c.169+4194G>C ENSP00000490535.1:n.169+4194G>C
ENST00000638147.2:c.565+4194G>C ENSP00000490953.2:n.565+4194G>C
ENST00000377453.7:c.713-137G>C (CLN5) ENSP00000366673.3:n.713-137G>C
ENST00000477982.2:n.1988C>G (FBXL3)
ENST00000485797.2:n.174-7370C>G (FBXL3)
ENST00000616833.4:c.566-137G>C (CLN5) ENSP00000479547.1:n.566-137G>C
NM_006493.2:c.713-137G>C , LRG_692t1:c.713-137G>C (CLN5) NP_006484.1:n.713-137G>C
XM_011534917.1:c.*15-137G>C (CLN5) XP_011533219.1:n.*15-137G>C
NM_001366624.1:c.*15-137G>C (CLN5) NP_001353553.1:n.*15-137G>C
NM_006493.3:c.566-137G>C (CLN5) NP_006484.2:n.566-137G>C
XM_017020538.2:c.644-7370C>G (FBXL3) XP_016876027.1:n.644-7370C>G
NM_001366624.2:c.*15-137G>C (CLN5) NP_001353553.1:n.*15-137G>C
NM_006493.4:c.566-137G>C (CLN5) MANE Select NP_006484.2:n.566-137G>C