Canonical Allele Identifier: CA369241049
Gene: IRF5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128948715G>C , CM000669.2:g.128948715G>C GRCh38
NC_000007.13:g.128588769G>C , CM000669.1:g.128588769G>C GRCh37
NC_000007.12:g.128376005G>C NCBI36
NG_012306.1:g.15776G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000700148.1:n.1678G>C
ENST00000700151.1:n.3944G>C
ENST00000700152.1:n.3484G>C
ENST00000700153.1:n.2858G>C
ENST00000700154.1:n.1022G>C
ENST00000357234.10:c.1442G>C MANE Select ENSP00000349770.5:p.Trp481Ser
ENST00000489702.6:c.1442G>C ENSP00000418037.2:p.Trp481Ser
ENST00000249375.8:c.1394G>C ENSP00000249375.4:p.Trp465Ser
ENST00000357234.9:c.1442G>C ENSP00000349770.5:p.Trp481Ser
ENST00000402030.6:c.1394G>C ENSP00000385352.2:p.Trp465Ser
ENST00000465603.5:c.*922G>C ENSP00000418534.1:n.*922G>C
ENST00000473745.5:c.1394G>C ENSP00000419149.1:p.Trp465Ser
ENST00000477535.5:c.1136G>C ENSP00000419950.1:p.Trp379Ser
ENST00000619830.1:c.*892G>C ENSP00000483292.1:n.*892G>C
NM_001098627.3:c.1394G>C NP_001092097.2:p.Trp465Ser
NM_001098629.2:c.1442G>C NP_001092099.1:p.Trp481Ser
NM_001098630.2:c.1394G>C NP_001092100.1:p.Trp465Ser
NM_001242452.2:c.1136G>C NP_001229381.1:p.Trp379Ser
NM_032643.4:c.1394G>C NP_116032.1:p.Trp465Ser
XM_005250317.2:c.1442G>C XP_005250374.1:p.Trp481Ser
XM_006715974.2:c.1442G>C XP_006716037.1:p.Trp481Ser
XM_011516158.1:c.1442G>C XP_011514460.1:p.Trp481Ser
XM_011516159.1:c.1442G>C XP_011514461.1:p.Trp481Ser
XM_011516160.1:c.1442G>C XP_011514462.1:p.Trp481Ser
XM_011516161.1:c.1412G>C XP_011514463.1:p.Trp471Ser
XM_011516162.1:c.1364G>C XP_011514464.1:p.Trp455Ser
XM_011516163.1:c.1364G>C XP_011514465.1:p.Trp455Ser
XM_011516164.1:c.1364G>C XP_011514466.1:p.Trp455Ser
NM_001347928.1:c.1442G>C NP_001334857.1:p.Trp481Ser
NM_001364314.1:c.1442G>C NP_001351243.1:p.Trp481Ser
XM_011516158.3:c.1442G>C XP_011514460.1:p.Trp481Ser
XM_011516159.3:c.1442G>C XP_011514461.1:p.Trp481Ser
NM_001098629.3:c.1442G>C MANE Select NP_001092099.1:p.Trp481Ser
NM_001098630.3:c.1394G>C NP_001092100.1:p.Trp465Ser
NM_001242452.3:c.1136G>C NP_001229381.1:p.Trp379Ser
NM_001347928.2:c.1442G>C NP_001334857.1:p.Trp481Ser
NM_001364314.2:c.1442G>C NP_001351243.1:p.Trp481Ser
NM_001098627.4:c.1394G>C NP_001092097.2:p.Trp465Ser
NM_032643.5:c.1394G>C NP_116032.1:p.Trp465Ser