Canonical Allele Identifier: CA898340918

Gene: UMPS

Linked Data

• dbSNP Id: rs1342922394
• MyVariant Identifiers: chr3:g.124456272C>G (hg19) ; chr3:g.124737425C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.124737425C>G , CM000665.2:g.124737425C>G	GRCh38
NC_000003.11:g.124456272C>G , CM000665.1:g.124456272C>G	GRCh37
NC_000003.10:g.125938962C>G	NCBI36
NG_017037.1:g.12060C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000232607.7:c.311-143C>G MANE Select	ENSP00000232607.2:n.311-143C>G
ENST00000232607.6:c.311-143C>G	ENSP00000232607.2:n.311-143C>G
ENST00000460034.5:c.*55-143C>G	ENSP00000420409.1:n.*55-143C>G
ENST00000462091.5:c.157-143C>G	ENSP00000417893.1:n.157-143C>G
ENST00000467167.5:c.*209-143C>G	ENSP00000419618.1:n.*209-143C>G
ENST00000474588.5:c.311-490C>G	ENSP00000420348.1:n.311-490C>G
ENST00000479719.5:c.311-143C>G	ENSP00000420754.1:n.311-143C>G
ENST00000497791.5:c.157-143C>G	ENSP00000419121.1:n.157-143C>G
ENST00000498715.1:n.29-143C>G
NM_000373.3:c.311-143C>G	NP_000364.1:n.311-143C>G
NR_033434.1:n.263-143C>G
NR_033437.1:n.516-143C>G
XR_001740253.2:n.341-143C>G
NM_000373.4:c.311-143C>G MANE Select	NP_000364.1:n.311-143C>G
NR_033434.2:n.177-143C>G
NR_033437.2:n.430-143C>G