LDH info

Canonical Allele Identifier: CA345096
Gene: OTOF HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 65783
ClinVar RCV Id: RCV000056022
dbSNP Id: rs397515588

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26480809C>T , CM000664.2:g.26480809C>T GRCh38
NC_000002.11:g.26703677C>T , CM000664.1:g.26703677C>T GRCh37
NC_000002.10:g.26557181C>T NCBI36
NG_009937.1:g.82890G>A

Transcript Alleles

HGVS Amino-acid change
NM_001287489.1:c.1780G>A VV NP_001274418.1:p.Glu594Lys
NM_194248.2:c.1780G>A VV NP_919224.1:p.Glu594Lys
XM_005264644.2:n.1825G>A XP_005264701.1:p.Glu609Lys
XM_011533185.1:n.1825G>A XP_011531487.1:p.Glu609Lys
XM_017005338.1:n.1780G>A XP_016860827.1:p.Glu594Lys
NM_001287489.2:c.1780G>A VV NP_001274418.1:p.Glu594Lys
NM_194248.3:c.1780G>A VV MANE Preferred NP_919224.1:p.Glu594Lys
ENST00000272371.6:c.1780G>A ENSP00000272371.2:p.Glu594Lys
ENST00000403946.7:c.1780G>A ENSP00000385255.3:p.Glu594Lys