Canonical Allele Identifier: CA1398971031

Gene: UMPS

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.124737583T= , CM000665.2:g.124737583T=	GRCh38
NC_000003.11:g.124456430T= , CM000665.1:g.124456430T=	GRCh37
NC_000003.10:g.125939120T=	NCBI36
NG_017037.1:g.12218T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000232607.7:c.326T= MANE Select	ENSP00000232607.2:p.Val109=
ENST00000232607.6:c.326T=	ENSP00000232607.2:p.Val109=
ENST00000460034.5:c.*70T=	ENSP00000420409.1:n.*70T=
ENST00000462091.5:c.172T=	ENSP00000417893.1:p.Ter58=
ENST00000467167.5:c.*224T=	ENSP00000419618.1:n.*224T=
ENST00000474588.5:c.311-332T=	ENSP00000420348.1:n.311-332T=
ENST00000479719.5:c.326T=	ENSP00000420754.1:p.Val109=
ENST00000497791.5:c.172T=	ENSP00000419121.1:p.Ter58=
ENST00000498715.1:n.44T=
NM_000373.3:c.326T=	NP_000364.1:p.Val109=
NR_033434.1:n.278T=
NR_033437.1:n.531T=
XR_001740253.2:n.356T=
NM_000373.4:c.326T= MANE Select	NP_000364.1:p.Val109=
NR_033434.2:n.192T=
NR_033437.2:n.445T=