Canonical Allele Identifier: CA2830536989
Gene: USO1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.75760874T>C , CM000666.2:g.75760874T>C GRCh38
NC_000004.11:g.76682027T>C , CM000666.1:g.76682027T>C GRCh37
NC_000004.10:g.76901051T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000514213.7:c.295+3301T>C MANE Select ENSP00000444850.2:n.295+3301T>C
ENST00000264904.8:c.307+269T>C ENSP00000264904.7:n.307+269T>C
ENST00000514213.6:c.295+3301T>C ENSP00000444850.2:n.295+3301T>C
NM_001290049.1:c.307+269T>C NP_001276978.1:n.307+269T>C
NM_003715.3:c.295+3301T>C NP_003706.2:n.295+3301T>C
XM_006714396.2:c.295+3301T>C XP_006714459.1:n.295+3301T>C
XM_006714397.2:c.307+269T>C XP_006714460.1:n.307+269T>C
XM_006714396.4:c.295+3301T>C XP_006714459.1:n.295+3301T>C
XM_006714397.3:c.307+269T>C XP_006714460.1:n.307+269T>C
NM_001290049.2:c.307+269T>C NP_001276978.1:n.307+269T>C
NM_003715.4:c.295+3301T>C MANE Select NP_003706.2:n.295+3301T>C