LDH info

Canonical Allele Identifier: CA116179
Gene: IRF5 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 3397
ClinVar RCV Id: RCV000003566
dbSNP Id: rs10954213

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128949373G>A , CM000669.2:g.128949373G>A GRCh38
NC_000007.13:g.128589427G>A , CM000669.1:g.128589427G>A GRCh37
NC_000007.12:g.128376663G>A NCBI36
NG_012306.1:g.16434G>A

Transcript Alleles

HGVS Amino-acid change
NM_001098627.3:c.*555G>A VV NP_001092097.2:p.=
NM_001098629.2:c.*555G>A VV NP_001092099.1:p.=
NM_001098630.2:c.*555G>A VV NP_001092100.1:p.=
NM_001242452.2:c.*555G>A VV NP_001229381.1:p.=
NM_032643.4:c.*555G>A VV NP_116032.1:p.=
XM_005250317.2:c.*555G>A XP_005250374.1:p.=
XM_006715974.2:c.*555G>A XP_006716037.1:p.=
XM_011516158.1:c.*555G>A XP_011514460.1:p.=
XM_011516159.1:c.*555G>A XP_011514461.1:p.=
XM_011516160.1:c.*555G>A XP_011514462.1:p.=
XM_011516161.1:c.*555G>A XP_011514463.1:p.=
XM_011516162.1:c.*555G>A XP_011514464.1:p.=
XM_011516163.1:c.*555G>A XP_011514465.1:p.=
XM_011516164.1:c.*555G>A XP_011514466.1:p.=
NM_001347928.1:c.*555G>A VV NP_001334857.1:p.=
NM_001364314.1:c.*555G>A VV NP_001351243.1:p.=
XM_011516158.3:c.*555G>A XP_011514460.1:p.=
XM_011516159.3:c.*555G>A XP_011514461.1:p.=
NM_001098629.3:c.*555G>A VV MANE Preferred NP_001092099.1:p.=
ENST00000249375.8:c.*555G>A ENSP00000249375.4:p.=
ENST00000402030.6:c.*555G>A ENSP00000385352.2:p.=
ENST00000465603.5:c.*1580G>A ENSP00000418534.1:p.=
ENST00000473745.5:c.*555G>A ENSP00000419149.1:p.=