Canonical Allele Identifier: CA410603048
Gene: U2AF1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.43094506C>G (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43094506C>G , CM000683.2:g.43094506C>G GRCh38
NG_029455.1:g.18073G>C , LRG_615:g.18073G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000291552.9:c.540G>C MANE Select ENSP00000291552.4:p.Glu180Asp
ENST00000291552.8:c.540G>C ENSP00000291552.4:p.Glu180Asp
ENST00000380276.6:c.540G>C ENSP00000369629.2:p.Glu180Asp
ENST00000398137.5:c.321G>C ENSP00000381205.1:p.Glu107Asp
ENST00000459639.5:c.321G>C ENSP00000418705.1:p.Glu107Asp
ENST00000464750.5:c.*379G>C ENSP00000420672.1:n.*379G>C
ENST00000471250.5:n.1347G>C
ENST00000475639.5:n.4365G>C
ENST00000478282.1:n.1794G>C
ENST00000486519.5:n.587G>C
NM_001025203.1:c.540G>C , LRG_615t1:c.540G>C NP_001020374.1:p.Glu180Asp
NM_001025204.1:c.321G>C NP_001020375.1:p.Glu107Asp
NM_006758.2:c.540G>C , LRG_615t2:c.540G>C NP_006749.1:p.Glu180Asp
XM_011529743.1:c.441G>C XP_011528045.1:p.Glu147Asp
XM_011529743.3:c.441G>C XP_011528045.1:p.Glu147Asp
XM_017028468.2:c.441G>C XP_016883957.1:p.Glu147Asp
XM_024452129.1:c.321G>C XP_024307897.1:p.Glu107Asp
XM_024452130.1:c.321G>C XP_024307898.1:p.Glu107Asp
XM_024452131.1:c.321G>C XP_024307899.1:p.Glu107Asp
NM_001025204.2:c.321G>C NP_001020375.1:p.Glu107Asp
NM_006758.3:c.540G>C MANE Select NP_006749.1:p.Glu180Asp