Canonical Allele Identifier: CA1398970988

Gene: UMPS

Linked Data

• dbSNP Id: rs2063525830
• gnomAD v4: 3-124737498-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.124737498G>A , CM000665.2:g.124737498G>A	GRCh38
NC_000003.11:g.124456345G>A , CM000665.1:g.124456345G>A	GRCh37
NC_000003.10:g.125939035G>A	NCBI36
NG_017037.1:g.12133G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000232607.7:c.311-70G>A MANE Select	ENSP00000232607.2:n.311-70G>A
ENST00000232607.6:c.311-70G>A	ENSP00000232607.2:n.311-70G>A
ENST00000460034.5:c.*55-70G>A	ENSP00000420409.1:n.*55-70G>A
ENST00000462091.5:c.157-70G>A	ENSP00000417893.1:n.157-70G>A
ENST00000467167.5:c.*209-70G>A	ENSP00000419618.1:n.*209-70G>A
ENST00000474588.5:c.311-417G>A	ENSP00000420348.1:n.311-417G>A
ENST00000479719.5:c.311-70G>A	ENSP00000420754.1:n.311-70G>A
ENST00000497791.5:c.157-70G>A	ENSP00000419121.1:n.157-70G>A
ENST00000498715.1:n.29-70G>A
NM_000373.3:c.311-70G>A	NP_000364.1:n.311-70G>A
NR_033434.1:n.263-70G>A
NR_033437.1:n.516-70G>A
XR_001740253.2:n.341-70G>A
NM_000373.4:c.311-70G>A MANE Select	NP_000364.1:n.311-70G>A
NR_033434.2:n.177-70G>A
NR_033437.2:n.430-70G>A