Canonical Allele Identifier: CA1398971101

Gene: UMPS

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.124737809G= , CM000665.2:g.124737809G=	GRCh38
NC_000003.11:g.124456656G= , CM000665.1:g.124456656G=	GRCh37
NC_000003.10:g.125939346G=	NCBI36
NG_017037.1:g.12444G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000232607.7:c.552G= MANE Select	ENSP00000232607.2:p.Glu184=
ENST00000232607.6:c.552G=	ENSP00000232607.2:p.Glu184=
ENST00000460034.5:c.*296G=	ENSP00000420409.1:n.*296G=
ENST00000462091.5:c.*224G=	ENSP00000417893.1:n.*224G=
ENST00000467167.5:c.*450G=	ENSP00000419618.1:n.*450G=
ENST00000474588.5:c.311-106G=	ENSP00000420348.1:n.311-106G=
ENST00000479719.5:c.552G=	ENSP00000420754.1:p.Glu184=
ENST00000497791.5:c.*224G=	ENSP00000419121.1:n.*224G=
ENST00000498715.1:n.270G=
NM_000373.3:c.552G=	NP_000364.1:p.Glu184=
NR_033434.1:n.504G=
NR_033437.1:n.757G=
XR_001740253.2:n.582G=
NM_000373.4:c.552G= MANE Select	NP_000364.1:p.Glu184=
NR_033434.2:n.418G=
NR_033437.2:n.671G=