LDH info

Canonical Allele Identifier: CA345095
Gene: OTOF HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 65782
ClinVar RCV Id: RCV000056021
dbSNP Id: rs397515587

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26480849del , CM000664.2:g.26480849del GRCh38
NC_000002.11:g.26703717del , CM000664.1:g.26703717del GRCh37
NC_000002.10:g.26557221del NCBI36
NG_009937.1:g.82849del

Transcript Alleles

HGVS Amino-acid change
NM_001287489.1:c.1739del VV NP_001274418.1:p.Ser581ProfsTer?
NM_194248.2:c.1739del VV NP_919224.1:p.Ser581ProfsTer?
XM_005264644.2:n.1784del XP_005264701.1:p.Ser596ProfsTer?
XM_011533185.1:n.1784del XP_011531487.1:p.Ser596ProfsTer?
XM_017005338.1:n.1739del XP_016860827.1:p.Ser581ProfsTer?
NM_001287489.2:c.1739del VV NP_001274418.1:p.Ser581ProfsTer?
NM_194248.3:c.1739del VV MANE Preferred NP_919224.1:p.Ser581ProfsTer?
ENST00000272371.6:c.1739del ENSP00000272371.2:p.Ser581ProfsTer?
ENST00000403946.7:c.1739del ENSP00000385255.3:p.Ser581ProfsTer?