Canonical Allele Identifier: CA354275612

Gene: UMPS

Linked Data

• dbSNP Id: rs1801019
• gnomAD v2: 3-124456742-G-A
• gnomAD v4: 3-124737895-G-A
• MyVariant Identifiers: chr3:g.124456742G>A (hg19) ; chr3:g.124737895G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.124737895G>A , CM000665.2:g.124737895G>A	GRCh38
NC_000003.11:g.124456742G>A , CM000665.1:g.124456742G>A	GRCh37
NC_000003.10:g.125939432G>A	NCBI36
NG_017037.1:g.12530G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000232607.7:c.638G>A MANE Select	ENSP00000232607.2:p.Gly213Asp
ENST00000232607.6:c.638G>A	ENSP00000232607.2:p.Gly213Asp
ENST00000460034.5:c.*382G>A	ENSP00000420409.1:n.*382G>A
ENST00000462091.5:c.*310G>A	ENSP00000417893.1:n.*310G>A
ENST00000467167.5:c.*536G>A	ENSP00000419618.1:n.*536G>A
ENST00000474588.5:c.311-20G>A	ENSP00000420348.1:n.311-20G>A
ENST00000479719.5:c.638G>A	ENSP00000420754.1:p.Gly213Asp
ENST00000497791.5:c.*310G>A	ENSP00000419121.1:n.*310G>A
ENST00000498715.1:n.356G>A
NM_000373.3:c.638G>A	NP_000364.1:p.Gly213Asp
NR_033434.1:n.590G>A
NR_033437.1:n.843G>A
XR_001740253.2:n.668G>A
NM_000373.4:c.638G>A MANE Select	NP_000364.1:p.Gly213Asp
NR_033434.2:n.504G>A
NR_033437.2:n.757G>A