Canonical Allele Identifier: CA2581649

Gene: UMPS

Linked Data

• dbSNP Id: rs755627001
• ExAC: 3:124456446 T / G
• gnomAD v2: 3-124456446-T-G
• gnomAD v4: 3-124737599-T-G
• MyVariant Identifiers: chr3:g.124456446T>G (hg19) ; chr3:g.124737599T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.124737599T>G , CM000665.2:g.124737599T>G	GRCh38
NC_000003.11:g.124456446T>G , CM000665.1:g.124456446T>G	GRCh37
NC_000003.10:g.125939136T>G	NCBI36
NG_017037.1:g.12234T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000232607.7:c.342T>G MANE Select	ENSP00000232607.2:p.Asn114Lys
ENST00000232607.6:c.342T>G	ENSP00000232607.2:p.Asn114Lys
ENST00000460034.5:c.*86T>G	ENSP00000420409.1:n.*86T>G
ENST00000462091.5:c.*14T>G	ENSP00000417893.1:n.*14T>G
ENST00000467167.5:c.*240T>G	ENSP00000419618.1:n.*240T>G
ENST00000474588.5:c.311-316T>G	ENSP00000420348.1:n.311-316T>G
ENST00000479719.5:c.342T>G	ENSP00000420754.1:p.Asn114Lys
ENST00000497791.5:c.*14T>G	ENSP00000419121.1:n.*14T>G
ENST00000498715.1:n.60T>G
NM_000373.3:c.342T>G	NP_000364.1:p.Asn114Lys
NR_033434.1:n.294T>G
NR_033437.1:n.547T>G
XR_001740253.2:n.372T>G
NM_000373.4:c.342T>G MANE Select	NP_000364.1:p.Asn114Lys
NR_033434.2:n.208T>G
NR_033437.2:n.461T>G