Canonical Allele Identifier: CA1398971098

Gene: UMPS

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.124737804C= , CM000665.2:g.124737804C=	GRCh38
NC_000003.11:g.124456651C= , CM000665.1:g.124456651C=	GRCh37
NC_000003.10:g.125939341C=	NCBI36
NG_017037.1:g.12439C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000232607.7:c.547C= MANE Select	ENSP00000232607.2:p.Leu183=
ENST00000232607.6:c.547C=	ENSP00000232607.2:p.Leu183=
ENST00000460034.5:c.*291C=	ENSP00000420409.1:n.*291C=
ENST00000462091.5:c.*219C=	ENSP00000417893.1:n.*219C=
ENST00000467167.5:c.*445C=	ENSP00000419618.1:n.*445C=
ENST00000474588.5:c.311-111C=	ENSP00000420348.1:n.311-111C=
ENST00000479719.5:c.547C=	ENSP00000420754.1:p.Leu183=
ENST00000497791.5:c.*219C=	ENSP00000419121.1:n.*219C=
ENST00000498715.1:n.265C=
NM_000373.3:c.547C=	NP_000364.1:p.Leu183=
NR_033434.1:n.499C=
NR_033437.1:n.752C=
XR_001740253.2:n.577C=
NM_000373.4:c.547C= MANE Select	NP_000364.1:p.Leu183=
NR_033434.2:n.413C=
NR_033437.2:n.666C=