Canonical Allele Identifier: CA1398971033

Gene: UMPS

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.124737593T= , CM000665.2:g.124737593T=	GRCh38
NC_000003.11:g.124456440T= , CM000665.1:g.124456440T=	GRCh37
NC_000003.10:g.125939130T=	NCBI36
NG_017037.1:g.12228T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000232607.7:c.336T= MANE Select	ENSP00000232607.2:p.Thr112=
ENST00000232607.6:c.336T=	ENSP00000232607.2:p.Thr112=
ENST00000460034.5:c.*80T=	ENSP00000420409.1:n.*80T=
ENST00000462091.5:c.*8T=	ENSP00000417893.1:n.*8T=
ENST00000467167.5:c.*234T=	ENSP00000419618.1:n.*234T=
ENST00000474588.5:c.311-322T=	ENSP00000420348.1:n.311-322T=
ENST00000479719.5:c.336T=	ENSP00000420754.1:p.Thr112=
ENST00000497791.5:c.*8T=	ENSP00000419121.1:n.*8T=
ENST00000498715.1:n.54T=
NM_000373.3:c.336T=	NP_000364.1:p.Thr112=
NR_033434.1:n.288T=
NR_033437.1:n.541T=
XR_001740253.2:n.366T=
NM_000373.4:c.336T= MANE Select	NP_000364.1:p.Thr112=
NR_033434.2:n.202T=
NR_033437.2:n.455T=