Canonical Allele Identifier: CA354272664

Gene: UMPS

Linked Data

• gnomAD v4: 3-124737583-T-A
• MyVariant Identifiers: chr3:g.124456430T>A (hg19) ; chr3:g.124737583T>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000232607.7:c.326T>A MANE Select	ENSP00000232607.2:p.Val109Glu
ENST00000232607.6:c.326T>A	ENSP00000232607.2:p.Val109Glu
ENST00000460034.5:c.*70T>A	ENSP00000420409.1:n.*70T>A
ENST00000462091.5:c.172T>A	ENSP00000417893.1:p.Ter58Lys
ENST00000467167.5:c.*224T>A	ENSP00000419618.1:n.*224T>A
ENST00000474588.5:c.311-332T>A	ENSP00000420348.1:n.311-332T>A
ENST00000479719.5:c.326T>A	ENSP00000420754.1:p.Val109Glu
ENST00000497791.5:c.172T>A	ENSP00000419121.1:p.Ter58Lys
ENST00000498715.1:n.44T>A
NM_000373.3:c.326T>A	NP_000364.1:p.Val109Glu
NR_033434.1:n.278T>A
NR_033437.1:n.531T>A
XR_001740253.2:n.356T>A
NM_000373.4:c.326T>A MANE Select	NP_000364.1:p.Val109Glu
NR_033434.2:n.192T>A
NR_033437.2:n.445T>A