Canonical Allele Identifier: CA898340932

Gene: UMPS

Linked Data

• dbSNP Id: rs1311661087
• gnomAD v3: 3-124737429-C-A
• gnomAD v4: 3-124737429-C-A
• MyVariant Identifiers: chr3:g.124456276C>A (hg19) ; chr3:g.124737429C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.124737429C>A , CM000665.2:g.124737429C>A	GRCh38
NC_000003.11:g.124456276C>A , CM000665.1:g.124456276C>A	GRCh37
NC_000003.10:g.125938966C>A	NCBI36
NG_017037.1:g.12064C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000232607.7:c.311-139C>A MANE Select	ENSP00000232607.2:n.311-139C>A
ENST00000232607.6:c.311-139C>A	ENSP00000232607.2:n.311-139C>A
ENST00000460034.5:c.*55-139C>A	ENSP00000420409.1:n.*55-139C>A
ENST00000462091.5:c.157-139C>A	ENSP00000417893.1:n.157-139C>A
ENST00000467167.5:c.*209-139C>A	ENSP00000419618.1:n.*209-139C>A
ENST00000474588.5:c.311-486C>A	ENSP00000420348.1:n.311-486C>A
ENST00000479719.5:c.311-139C>A	ENSP00000420754.1:n.311-139C>A
ENST00000497791.5:c.157-139C>A	ENSP00000419121.1:n.157-139C>A
ENST00000498715.1:n.29-139C>A
NM_000373.3:c.311-139C>A	NP_000364.1:n.311-139C>A
NR_033434.1:n.263-139C>A
NR_033437.1:n.516-139C>A
XR_001740253.2:n.341-139C>A
NM_000373.4:c.311-139C>A MANE Select	NP_000364.1:n.311-139C>A
NR_033434.2:n.177-139C>A
NR_033437.2:n.430-139C>A