LDH info

Canonical Allele Identifier: CA344698
Gene: OTOF HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 48240
dbSNP Id: rs111033405

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26465753A>G , CM000664.2:g.26465753A>G GRCh38
NC_000002.11:g.26688621A>G , CM000664.1:g.26688621A>G GRCh37
NC_000002.10:g.26542125A>G NCBI36
NG_009937.1:g.97946T>C

Transcript Alleles

HGVS Amino-acid change
NM_001287489.1:c.4718T>C VV NP_001274418.1:p.Ile1573Thr
NM_004802.3:c.2417T>C VV NP_004793.2:p.Ile806Thr
NM_194248.2:c.4718T>C VV NP_919224.1:p.Ile1573Thr
NM_194322.2:c.2648T>C VV NP_919303.1:p.Ile883Thr
NM_194323.2:c.2417T>C VV NP_919304.1:p.Ile806Thr
XM_005264644.2:n.4703T>C XP_005264701.1:p.Ile1568Thr
XM_011533185.1:n.4763T>C XP_011531487.1:p.Ile1588Thr
XM_017005338.1:n.4658T>C XP_016860827.1:p.Ile1553Thr
NM_001287489.2:c.4718T>C VV NP_001274418.1:p.Ile1573Thr
NM_004802.4:c.2417T>C VV NP_004793.2:p.Ile806Thr
NM_194248.3:c.4718T>C VV MANE Preferred NP_919224.1:p.Ile1573Thr
NM_194322.3:c.2648T>C VV NP_919303.1:p.Ile883Thr
NM_194323.3:c.2417T>C VV NP_919304.1:p.Ile806Thr
ENST00000272371.6:c.4718T>C ENSP00000272371.2:p.Ile1573Thr
ENST00000338581.10:c.2417T>C ENSP00000345137.6:p.Ile806Thr
ENST00000339598.7:c.2417T>C ENSP00000344521.3:p.Ile806Thr
ENST00000402415.7:c.2648T>C ENSP00000383906.3:p.Ile883Thr
ENST00000403946.7:c.4718T>C ENSP00000385255.3:p.Ile1573Thr
ENST00000464574.1:n.467T>C