Canonical Allele Identifier: CA2581687

Gene: UMPS

Linked Data

• ClinVar Variation Id: 1311700
• ClinVar RCV Id: RCV001752683
• dbSNP Id: rs778507698
• ExAC: 3:124456721 T / C
• gnomAD v2: 3-124456721-T-C
• gnomAD v3: 3-124737874-T-C
• gnomAD v4: 3-124737874-T-C
• MyVariant Identifiers: chr3:g.124456721T>C (hg19) ; chr3:g.124737874T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.124737874T>C , CM000665.2:g.124737874T>C	GRCh38
NC_000003.11:g.124456721T>C , CM000665.1:g.124456721T>C	GRCh37
NC_000003.10:g.125939411T>C	NCBI36
NG_017037.1:g.12509T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000232607.7:c.617T>C MANE Select	ENSP00000232607.2:p.Phe206Ser
ENST00000232607.6:c.617T>C	ENSP00000232607.2:p.Phe206Ser
ENST00000460034.5:c.*361T>C	ENSP00000420409.1:n.*361T>C
ENST00000462091.5:c.*289T>C	ENSP00000417893.1:n.*289T>C
ENST00000467167.5:c.*515T>C	ENSP00000419618.1:n.*515T>C
ENST00000474588.5:c.311-41T>C	ENSP00000420348.1:n.311-41T>C
ENST00000479719.5:c.617T>C	ENSP00000420754.1:p.Phe206Ser
ENST00000497791.5:c.*289T>C	ENSP00000419121.1:n.*289T>C
ENST00000498715.1:n.335T>C
NM_000373.3:c.617T>C	NP_000364.1:p.Phe206Ser
NR_033434.1:n.569T>C
NR_033437.1:n.822T>C
XR_001740253.2:n.647T>C
NM_000373.4:c.617T>C MANE Select	NP_000364.1:p.Phe206Ser
NR_033434.2:n.483T>C
NR_033437.2:n.736T>C