Canonical Allele Identifier: CA1398971065

Gene: UMPS

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.124737683G= , CM000665.2:g.124737683G=	GRCh38
NC_000003.11:g.124456530G= , CM000665.1:g.124456530G=	GRCh37
NC_000003.10:g.125939220G=	NCBI36
NG_017037.1:g.12318G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000232607.7:c.426G= MANE Select	ENSP00000232607.2:p.Glu142=
ENST00000232607.6:c.426G=	ENSP00000232607.2:p.Glu142=
ENST00000460034.5:c.*170G=	ENSP00000420409.1:n.*170G=
ENST00000462091.5:c.*98G=	ENSP00000417893.1:n.*98G=
ENST00000467167.5:c.*324G=	ENSP00000419618.1:n.*324G=
ENST00000474588.5:c.311-232G=	ENSP00000420348.1:n.311-232G=
ENST00000479719.5:c.426G=	ENSP00000420754.1:p.Glu142=
ENST00000497791.5:c.*98G=	ENSP00000419121.1:n.*98G=
ENST00000498715.1:n.144G=
NM_000373.3:c.426G=	NP_000364.1:p.Glu142=
NR_033434.1:n.378G=
NR_033437.1:n.631G=
XR_001740253.2:n.456G=
NM_000373.4:c.426G= MANE Select	NP_000364.1:p.Glu142=
NR_033434.2:n.292G=
NR_033437.2:n.545G=