Canonical Allele Identifier: CA546412878

Gene: UMPS

Linked Data

• dbSNP Id: rs1341181475
• gnomAD v2: 3-124456278-A-C
• gnomAD v3: 3-124737431-A-C
• gnomAD v4: 3-124737431-A-C
• MyVariant Identifiers: chr3:g.124456278A>C (hg19) ; chr3:g.124737431A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.124737431A>C , CM000665.2:g.124737431A>C	GRCh38
NC_000003.11:g.124456278A>C , CM000665.1:g.124456278A>C	GRCh37
NC_000003.10:g.125938968A>C	NCBI36
NG_017037.1:g.12066A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000232607.7:c.311-137A>C MANE Select	ENSP00000232607.2:n.311-137A>C
ENST00000232607.6:c.311-137A>C	ENSP00000232607.2:n.311-137A>C
ENST00000460034.5:c.*55-137A>C	ENSP00000420409.1:n.*55-137A>C
ENST00000462091.5:c.157-137A>C	ENSP00000417893.1:n.157-137A>C
ENST00000467167.5:c.*209-137A>C	ENSP00000419618.1:n.*209-137A>C
ENST00000474588.5:c.311-484A>C	ENSP00000420348.1:n.311-484A>C
ENST00000479719.5:c.311-137A>C	ENSP00000420754.1:n.311-137A>C
ENST00000497791.5:c.157-137A>C	ENSP00000419121.1:n.157-137A>C
ENST00000498715.1:n.29-137A>C
NM_000373.3:c.311-137A>C	NP_000364.1:n.311-137A>C
NR_033434.1:n.263-137A>C
NR_033437.1:n.516-137A>C
XR_001740253.2:n.341-137A>C
NM_000373.4:c.311-137A>C MANE Select	NP_000364.1:n.311-137A>C
NR_033434.2:n.177-137A>C
NR_033437.2:n.430-137A>C