Canonical Allele Identifier: CA435434719

Gene: UMPS

Linked Data

• dbSNP Id: rs2150896437
• MyVariant Identifiers: chr3:g.124456644G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.124737797G>A , CM000665.2:g.124737797G>A	GRCh38
NC_000003.11:g.124456644G>A , CM000665.1:g.124456644G>A	GRCh37
NC_000003.10:g.125939334G>A	NCBI36
NG_017037.1:g.12432G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000232607.7:c.540G>A MANE Select	ENSP00000232607.2:p.Leu180=
ENST00000232607.6:c.540G>A	ENSP00000232607.2:p.Leu180=
ENST00000460034.5:c.*284G>A	ENSP00000420409.1:n.*284G>A
ENST00000462091.5:c.*212G>A	ENSP00000417893.1:n.*212G>A
ENST00000467167.5:c.*438G>A	ENSP00000419618.1:n.*438G>A
ENST00000474588.5:c.311-118G>A	ENSP00000420348.1:n.311-118G>A
ENST00000479719.5:c.540G>A	ENSP00000420754.1:p.Leu180=
ENST00000497791.5:c.*212G>A	ENSP00000419121.1:n.*212G>A
ENST00000498715.1:n.258G>A
NM_000373.3:c.540G>A	NP_000364.1:p.Leu180=
NR_033434.1:n.492G>A
NR_033437.1:n.745G>A
XR_001740253.2:n.570G>A
NM_000373.4:c.540G>A MANE Select	NP_000364.1:p.Leu180=
NR_033434.2:n.406G>A
NR_033437.2:n.659G>A