Canonical Allele Identifier: CA1398971099

Gene: UMPS

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.124737806C= , CM000665.2:g.124737806C=	GRCh38
NC_000003.11:g.124456653C= , CM000665.1:g.124456653C=	GRCh37
NC_000003.10:g.125939343C=	NCBI36
NG_017037.1:g.12441C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000232607.7:c.549C= MANE Select	ENSP00000232607.2:p.Leu183=
ENST00000232607.6:c.549C=	ENSP00000232607.2:p.Leu183=
ENST00000460034.5:c.*293C=	ENSP00000420409.1:n.*293C=
ENST00000462091.5:c.*221C=	ENSP00000417893.1:n.*221C=
ENST00000467167.5:c.*447C=	ENSP00000419618.1:n.*447C=
ENST00000474588.5:c.311-109C=	ENSP00000420348.1:n.311-109C=
ENST00000479719.5:c.549C=	ENSP00000420754.1:p.Leu183=
ENST00000497791.5:c.*221C=	ENSP00000419121.1:n.*221C=
ENST00000498715.1:n.267C=
NM_000373.3:c.549C=	NP_000364.1:p.Leu183=
NR_033434.1:n.501C=
NR_033437.1:n.754C=
XR_001740253.2:n.579C=
NM_000373.4:c.549C= MANE Select	NP_000364.1:p.Leu183=
NR_033434.2:n.415C=
NR_033437.2:n.668C=