Canonical Allele Identifier: CA2581874

Gene: UMPS

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.124743957T>C , CM000665.2:g.124743957T>C	GRCh38
NC_000003.11:g.124462804T>C , CM000665.1:g.124462804T>C	GRCh37
NC_000003.10:g.125945494T>C	NCBI36
NG_017037.1:g.18592T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000232607.7:c.1316T>C MANE Select	ENSP00000232607.2:p.Ile439Thr
ENST00000232607.6:c.1316T>C	ENSP00000232607.2:p.Ile439Thr
ENST00000460034.5:c.*1060T>C	ENSP00000420409.1:n.*1060T>C
ENST00000462091.5:c.*988T>C	ENSP00000417893.1:n.*988T>C
ENST00000467167.5:c.*1214T>C	ENSP00000419618.1:n.*1214T>C
ENST00000474588.5:c.*540T>C	ENSP00000420348.1:n.*540T>C
ENST00000479719.5:c.*491T>C	ENSP00000420754.1:n.*491T>C
ENST00000495751.1:n.445T>C
ENST00000497791.5:c.*697T>C	ENSP00000419121.1:n.*697T>C
NM_000373.3:c.1316T>C	NP_000364.1:p.Ile439Thr
NR_033434.1:n.1268T>C
NR_033437.1:n.1521T>C
XR_001740253.2:n.1550T>C
NM_000373.4:c.1316T>C MANE Select	NP_000364.1:p.Ile439Thr
NR_033434.2:n.1182T>C
NR_033437.2:n.1435T>C