Canonical Allele Identifier: CA1398971040
Gene: UMPS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.124737610C= , CM000665.2:g.124737610C= GRCh38
NC_000003.11:g.124456457C= , CM000665.1:g.124456457C= GRCh37
NC_000003.10:g.125939147C= NCBI36
NG_017037.1:g.12245C=

Transcript Alleles

HGVS Amino-acid change
ENST00000232607.7:c.353C= MANE Select ENSP00000232607.2:p.Thr118=
ENST00000232607.6:c.353C= ENSP00000232607.2:p.Thr118=
ENST00000460034.5:c.*97C= ENSP00000420409.1:n.*97C=
ENST00000462091.5:c.*25C= ENSP00000417893.1:n.*25C=
ENST00000467167.5:c.*251C= ENSP00000419618.1:n.*251C=
ENST00000474588.5:c.311-305C= ENSP00000420348.1:n.311-305C=
ENST00000479719.5:c.353C= ENSP00000420754.1:p.Thr118=
ENST00000497791.5:c.*25C= ENSP00000419121.1:n.*25C=
ENST00000498715.1:n.71C=
NM_000373.3:c.353C= NP_000364.1:p.Thr118=
NR_033434.1:n.305C=
NR_033437.1:n.558C=
XR_001740253.2:n.383C=
NM_000373.4:c.353C= MANE Select NP_000364.1:p.Thr118=
NR_033434.2:n.219C=
NR_033437.2:n.472C=