Canonical Allele Identifier: CA388306486
Gene: CLN5 HGNC NCBI

Linked Data

ClinVar Variation Id: 553399
ClinVar RCV Id: RCV000668838
dbSNP Id: rs764790770
gnomAD v4: 13-76992175-G-A
MyVariant Identifiers: chr13:g.77566310G>A (hg19) chr13:g.76992175G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.76992175G>A , CM000675.2:g.76992175G>A GRCh38
NC_000013.10:g.77566310G>A , CM000675.1:g.77566310G>A GRCh37
NC_000013.9:g.76464311G>A NCBI36
NG_009064.1:g.5252G>A , LRG_692:g.5252G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000377453.9:c.77G>A MANE Select ENSP00000366673.5:p.Trp26Ter
ENST00000485938.4:c.77G>A ENSP00000482959.3:p.Trp26Ter
ENST00000616833.6:c.77G>A ENSP00000479547.3:p.Trp26Ter
ENST00000635905.1:n.78G>A
ENST00000635915.1:c.16G>A
ENST00000635989.1:n.87G>A
ENST00000636183.2:c.77G>A ENSP00000490181.2:p.Trp26Ter
ENST00000636525.2:c.77G>A ENSP00000490078.2:p.Trp26Ter
ENST00000636767.2:c.77G>A ENSP00000489855.2:p.Trp26Ter
ENST00000636780.2:c.77G>A ENSP00000489809.2:p.Trp26Ter
ENST00000637397.2:c.77G>A ENSP00000490422.2:p.Trp26Ter
ENST00000637537.2:c.77G>A ENSP00000489711.2:p.Trp26Ter
ENST00000638147.2:c.77G>A ENSP00000490953.2:p.Trp26Ter
ENST00000377453.7:c.224G>A ENSP00000366673.3:p.Trp75Ter
ENST00000485938.2:c.60G>A
ENST00000616833.4:c.77G>A ENSP00000479547.1:p.Trp26Ter
NM_006493.2:c.224G>A , LRG_692t1:c.224G>A NP_006484.1:p.Trp75Ter
XM_011534917.1:c.224G>A XP_011533219.1:p.Trp75Ter
NM_001366624.1:c.77G>A NP_001353553.1:p.Trp26Ter
NM_006493.3:c.77G>A NP_006484.2:p.Trp26Ter
NM_001366624.2:c.77G>A NP_001353553.1:p.Trp26Ter
NM_006493.4:c.77G>A MANE Select NP_006484.2:p.Trp26Ter
Search 100 bp 5'
Search 100 bp 3'