Canonical Allele Identifier: CA369240417
Gene: IRF5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128948576G>T , CM000669.2:g.128948576G>T GRCh38
NC_000007.13:g.128588630G>T , CM000669.1:g.128588630G>T GRCh37
NC_000007.12:g.128375866G>T NCBI36
NG_012306.1:g.15637G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000700148.1:n.1539G>T
ENST00000700151.1:n.3805G>T
ENST00000700152.1:n.3345G>T
ENST00000700153.1:n.2719G>T
ENST00000700154.1:n.883G>T
ENST00000357234.10:c.1303G>T MANE Select ENSP00000349770.5:p.Val435Leu
ENST00000489702.6:c.1303G>T ENSP00000418037.2:p.Val435Leu
ENST00000249375.8:c.1255G>T ENSP00000249375.4:p.Val419Leu
ENST00000357234.9:c.1303G>T ENSP00000349770.5:p.Val435Leu
ENST00000402030.6:c.1255G>T ENSP00000385352.2:p.Val419Leu
ENST00000465603.5:c.*783G>T ENSP00000418534.1:n.*783G>T
ENST00000473745.5:c.1255G>T ENSP00000419149.1:p.Val419Leu
ENST00000477535.5:c.997G>T ENSP00000419950.1:p.Val333Leu
ENST00000619830.1:c.*753G>T ENSP00000483292.1:n.*753G>T
NM_001098627.3:c.1255G>T NP_001092097.2:p.Val419Leu
NM_001098629.2:c.1303G>T NP_001092099.1:p.Val435Leu
NM_001098630.2:c.1255G>T NP_001092100.1:p.Val419Leu
NM_001242452.2:c.997G>T NP_001229381.1:p.Val333Leu
NM_032643.4:c.1255G>T NP_116032.1:p.Val419Leu
XM_005250317.2:c.1303G>T XP_005250374.1:p.Val435Leu
XM_006715974.2:c.1303G>T XP_006716037.1:p.Val435Leu
XM_011516158.1:c.1303G>T XP_011514460.1:p.Val435Leu
XM_011516159.1:c.1303G>T XP_011514461.1:p.Val435Leu
XM_011516160.1:c.1303G>T XP_011514462.1:p.Val435Leu
XM_011516161.1:c.1273G>T XP_011514463.1:p.Val425Leu
XM_011516162.1:c.1225G>T XP_011514464.1:p.Val409Leu
XM_011516163.1:c.1225G>T XP_011514465.1:p.Val409Leu
XM_011516164.1:c.1225G>T XP_011514466.1:p.Val409Leu
NM_001347928.1:c.1303G>T NP_001334857.1:p.Val435Leu
NM_001364314.1:c.1303G>T NP_001351243.1:p.Val435Leu
XM_011516158.3:c.1303G>T XP_011514460.1:p.Val435Leu
XM_011516159.3:c.1303G>T XP_011514461.1:p.Val435Leu
NM_001098629.3:c.1303G>T MANE Select NP_001092099.1:p.Val435Leu
NM_001098630.3:c.1255G>T NP_001092100.1:p.Val419Leu
NM_001242452.3:c.997G>T NP_001229381.1:p.Val333Leu
NM_001347928.2:c.1303G>T NP_001334857.1:p.Val435Leu
NM_001364314.2:c.1303G>T NP_001351243.1:p.Val435Leu
NM_001098627.4:c.1255G>T NP_001092097.2:p.Val419Leu
NM_032643.5:c.1255G>T NP_116032.1:p.Val419Leu