Canonical Allele Identifier: CA435434139

Gene: UMPS

Linked Data

• MyVariant Identifiers: chr3:g.124456452A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.124737605A>T , CM000665.2:g.124737605A>T	GRCh38
NC_000003.11:g.124456452A>T , CM000665.1:g.124456452A>T	GRCh37
NC_000003.10:g.125939142A>T	NCBI36
NG_017037.1:g.12240A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000232607.7:c.348A>T MANE Select	ENSP00000232607.2:p.Gly116=
ENST00000232607.6:c.348A>T	ENSP00000232607.2:p.Gly116=
ENST00000460034.5:c.*92A>T	ENSP00000420409.1:n.*92A>T
ENST00000462091.5:c.*20A>T	ENSP00000417893.1:n.*20A>T
ENST00000467167.5:c.*246A>T	ENSP00000419618.1:n.*246A>T
ENST00000474588.5:c.311-310A>T	ENSP00000420348.1:n.311-310A>T
ENST00000479719.5:c.348A>T	ENSP00000420754.1:p.Gly116=
ENST00000497791.5:c.*20A>T	ENSP00000419121.1:n.*20A>T
ENST00000498715.1:n.66A>T
NM_000373.3:c.348A>T	NP_000364.1:p.Gly116=
NR_033434.1:n.300A>T
NR_033437.1:n.553A>T
XR_001740253.2:n.378A>T
NM_000373.4:c.348A>T MANE Select	NP_000364.1:p.Gly116=
NR_033434.2:n.214A>T
NR_033437.2:n.467A>T