Canonical Allele Identifier: CA354272737

Gene: UMPS

Linked Data

• MyVariant Identifiers: chr3:g.124456442T>C (hg19) ; chr3:g.124737595T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.124737595T>C , CM000665.2:g.124737595T>C	GRCh38
NC_000003.11:g.124456442T>C , CM000665.1:g.124456442T>C	GRCh37
NC_000003.10:g.125939132T>C	NCBI36
NG_017037.1:g.12230T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000232607.7:c.338T>C MANE Select	ENSP00000232607.2:p.Ile113Thr
ENST00000232607.6:c.338T>C	ENSP00000232607.2:p.Ile113Thr
ENST00000460034.5:c.*82T>C	ENSP00000420409.1:n.*82T>C
ENST00000462091.5:c.*10T>C	ENSP00000417893.1:n.*10T>C
ENST00000467167.5:c.*236T>C	ENSP00000419618.1:n.*236T>C
ENST00000474588.5:c.311-320T>C	ENSP00000420348.1:n.311-320T>C
ENST00000479719.5:c.338T>C	ENSP00000420754.1:p.Ile113Thr
ENST00000497791.5:c.*10T>C	ENSP00000419121.1:n.*10T>C
ENST00000498715.1:n.56T>C
NM_000373.3:c.338T>C	NP_000364.1:p.Ile113Thr
NR_033434.1:n.290T>C
NR_033437.1:n.543T>C
XR_001740253.2:n.368T>C
NM_000373.4:c.338T>C MANE Select	NP_000364.1:p.Ile113Thr
NR_033434.2:n.204T>C
NR_033437.2:n.457T>C