Canonical Allele Identifier: CA1398971133

Gene: UMPS

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.124737898C= , CM000665.2:g.124737898C=	GRCh38
NC_000003.11:g.124456745C= , CM000665.1:g.124456745C=	GRCh37
NC_000003.10:g.125939435C=	NCBI36
NG_017037.1:g.12533C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000232607.7:c.641C= MANE Select	ENSP00000232607.2:p.Ser214=
ENST00000232607.6:c.641C=	ENSP00000232607.2:p.Ser214=
ENST00000460034.5:c.*385C=	ENSP00000420409.1:n.*385C=
ENST00000462091.5:c.*313C=	ENSP00000417893.1:n.*313C=
ENST00000467167.5:c.*539C=	ENSP00000419618.1:n.*539C=
ENST00000474588.5:c.311-17C=	ENSP00000420348.1:n.311-17C=
ENST00000479719.5:c.641C=	ENSP00000420754.1:p.Ser214=
ENST00000497791.5:c.*313C=	ENSP00000419121.1:n.*313C=
ENST00000498715.1:n.359C=
NM_000373.3:c.641C=	NP_000364.1:p.Ser214=
NR_033434.1:n.593C=
NR_033437.1:n.846C=
XR_001740253.2:n.671C=
NM_000373.4:c.641C= MANE Select	NP_000364.1:p.Ser214=
NR_033434.2:n.507C=
NR_033437.2:n.760C=