Canonical Allele Identifier: CA410603293
Gene: U2AF1 HGNC NCBI

Linked Data

dbSNP Id: rs2146453826
MyVariant Identifiers: chr21:g.43094694G>C (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43094694G>C , CM000683.2:g.43094694G>C GRCh38
NG_029455.1:g.17885C>G , LRG_615:g.17885C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000291552.9:c.443C>G MANE Select ENSP00000291552.4:p.Thr148Arg
ENST00000291552.8:c.443C>G ENSP00000291552.4:p.Thr148Arg
ENST00000380276.6:c.443C>G ENSP00000369629.2:p.Thr148Arg
ENST00000398137.5:c.224C>G ENSP00000381205.1:p.Thr75Arg
ENST00000459639.5:c.224C>G ENSP00000418705.1:p.Thr75Arg
ENST00000464750.5:c.*282C>G ENSP00000420672.1:n.*282C>G
ENST00000471250.5:n.1250C>G
ENST00000475639.5:n.4268C>G
ENST00000478282.1:n.1697C>G
ENST00000486519.5:n.490C>G
NM_001025203.1:c.443C>G , LRG_615t1:c.443C>G NP_001020374.1:p.Thr148Arg
NM_001025204.1:c.224C>G NP_001020375.1:p.Thr75Arg
NM_006758.2:c.443C>G , LRG_615t2:c.443C>G NP_006749.1:p.Thr148Arg
XM_011529743.1:c.344C>G XP_011528045.1:p.Thr115Arg
XM_011529743.3:c.344C>G XP_011528045.1:p.Thr115Arg
XM_017028468.2:c.344C>G XP_016883957.1:p.Thr115Arg
XM_024452129.1:c.224C>G XP_024307897.1:p.Thr75Arg
XM_024452130.1:c.224C>G XP_024307898.1:p.Thr75Arg
XM_024452131.1:c.224C>G XP_024307899.1:p.Thr75Arg
NM_001025204.2:c.224C>G NP_001020375.1:p.Thr75Arg
NM_006758.3:c.443C>G MANE Select NP_006749.1:p.Thr148Arg