Canonical Allele Identifier: CA2581650

Gene: UMPS

Linked Data

• ClinVar Variation Id: 1483728
• ClinVar RCV Id: RCV001998920
• dbSNP Id: rs779723295
• ExAC: 3:124456447 C / T
• gnomAD v2: 3-124456447-C-T
• gnomAD v3: 3-124737600-C-T
• gnomAD v4: 3-124737600-C-T
• MyVariant Identifiers: chr3:g.124456447C>T (hg19) ; chr3:g.124737600C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.124737600C>T , CM000665.2:g.124737600C>T	GRCh38
NC_000003.11:g.124456447C>T , CM000665.1:g.124456447C>T	GRCh37
NC_000003.10:g.125939137C>T	NCBI36
NG_017037.1:g.12235C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000232607.7:c.343C>T MANE Select	ENSP00000232607.2:p.Pro115Ser
ENST00000232607.6:c.343C>T	ENSP00000232607.2:p.Pro115Ser
ENST00000460034.5:c.*87C>T	ENSP00000420409.1:n.*87C>T
ENST00000462091.5:c.*15C>T	ENSP00000417893.1:n.*15C>T
ENST00000467167.5:c.*241C>T	ENSP00000419618.1:n.*241C>T
ENST00000474588.5:c.311-315C>T	ENSP00000420348.1:n.311-315C>T
ENST00000479719.5:c.343C>T	ENSP00000420754.1:p.Pro115Ser
ENST00000497791.5:c.*15C>T	ENSP00000419121.1:n.*15C>T
ENST00000498715.1:n.61C>T
NM_000373.3:c.343C>T	NP_000364.1:p.Pro115Ser
NR_033434.1:n.295C>T
NR_033437.1:n.548C>T
XR_001740253.2:n.373C>T
NM_000373.4:c.343C>T MANE Select	NP_000364.1:p.Pro115Ser
NR_033434.2:n.209C>T
NR_033437.2:n.462C>T