Canonical Allele Identifier: CA15490909
Gene: IRF5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128939366T>C , CM000669.2:g.128939366T>C GRCh38
NC_000007.13:g.128579420T>C , CM000669.1:g.128579420T>C GRCh37
NC_000007.12:g.128366656T>C NCBI36
NG_012306.1:g.6427T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000700148.1:n.52+1532T>C
ENST00000357234.10:c.-12+1317T>C MANE Select ENSP00000349770.5:n.-12+1317T>C
ENST00000489702.6:c.-12+1532T>C ENSP00000418037.2:n.-12+1532T>C
ENST00000650798.1:n.29+1121T>C
ENST00000652142.1:n.21+1317T>C
ENST00000652525.1:c.-12+1672T>C ENSP00000498293.1:n.-12+1672T>C
ENST00000249375.8:c.-12+1121T>C ENSP00000249375.4:n.-12+1121T>C
ENST00000357234.9:c.-12+1317T>C ENSP00000349770.5:n.-12+1317T>C
ENST00000402030.6:c.-12+1317T>C ENSP00000385352.2:n.-12+1317T>C
ENST00000461416.1:n.69+1317T>C
ENST00000464557.5:c.-158+1317T>C ENSP00000419056.1:n.-158+1317T>C
ENST00000473787.5:c.-12+1317T>C ENSP00000420274.1:n.-12+1317T>C
ENST00000477535.5:c.-12+1317T>C ENSP00000419950.1:n.-12+1317T>C
ENST00000479582.5:c.-125+1317T>C ENSP00000417770.1:n.-125+1317T>C
ENST00000488569.5:n.113+1317T>C
ENST00000489702.5:c.-12+1532T>C ENSP00000418037.1:n.-12+1532T>C
ENST00000613821.4:c.-12+1317T>C ENSP00000480058.1:n.-12+1317T>C
NM_001098629.2:c.-12+1317T>C NP_001092099.1:n.-12+1317T>C
NM_001098630.2:c.-12+1317T>C NP_001092100.1:n.-12+1317T>C
NM_001242452.2:c.-12+1317T>C NP_001229381.1:n.-12+1317T>C
NM_032643.4:c.-12+1121T>C NP_116032.1:n.-12+1121T>C
XM_006715974.2:c.-12+1121T>C XP_006716037.1:n.-12+1121T>C
XM_011516160.1:c.-12+1532T>C XP_011514462.1:n.-12+1532T>C
XM_011516161.1:c.-12+1317T>C XP_011514463.1:n.-12+1317T>C
XM_011516162.1:c.-12+1317T>C XP_011514464.1:n.-12+1317T>C
XM_011516164.1:c.-12+1121T>C XP_011514466.1:n.-12+1121T>C
NM_001347928.1:c.-12+2101T>C NP_001334857.1:n.-12+2101T>C
NM_001098629.3:c.-12+1317T>C MANE Select NP_001092099.1:n.-12+1317T>C
NM_001098630.3:c.-12+1317T>C NP_001092100.1:n.-12+1317T>C
NM_001242452.3:c.-12+1317T>C NP_001229381.1:n.-12+1317T>C
NM_001347928.2:c.-12+2101T>C NP_001334857.1:n.-12+2101T>C
NM_032643.5:c.-12+1121T>C NP_116032.1:n.-12+1121T>C