Canonical Allele Identifier: CA121771
Gene: UMPS HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 11907
ClinVar RCV Id: RCV000012682
dbSNP Id: rs121917892

User contributed link-outs

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000232607.6:c.326T>G ENSP00000232607.2:p.Val109Gly
ENST00000460034.5:c.*70T>G ENSP00000420409.1:p.=
ENST00000462091.5:c.172T>G ENSP00000417893.1:p.Ter58Glu
ENST00000467167.5:c.*224T>G ENSP00000419618.1:p.=
ENST00000474588.5:c.311-332T>G ENSP00000420348.1:p.=
ENST00000479719.5:c.326T>G ENSP00000420754.1:p.Val109Gly
ENST00000497791.5:c.172T>G ENSP00000419121.1:p.Ter58Glu
ENST00000498715.1:n.44T>G
NM_000373.3:c.326T>G NP_000364.1:p.Val109Gly
NR_033434.1:n.278T>G
NR_033437.1:n.531T>G