Canonical Allele Identifier: CA354274426

Gene: UMPS

Linked Data

• dbSNP Id: rs763120968
• MyVariant Identifiers: chr3:g.124456654G>C (hg19) ; chr3:g.124737807G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.124737807G>C , CM000665.2:g.124737807G>C	GRCh38
NC_000003.11:g.124456654G>C , CM000665.1:g.124456654G>C	GRCh37
NC_000003.10:g.125939344G>C	NCBI36
NG_017037.1:g.12442G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000232607.7:c.550G>C MANE Select	ENSP00000232607.2:p.Glu184Gln
ENST00000232607.6:c.550G>C	ENSP00000232607.2:p.Glu184Gln
ENST00000460034.5:c.*294G>C	ENSP00000420409.1:n.*294G>C
ENST00000462091.5:c.*222G>C	ENSP00000417893.1:n.*222G>C
ENST00000467167.5:c.*448G>C	ENSP00000419618.1:n.*448G>C
ENST00000474588.5:c.311-108G>C	ENSP00000420348.1:n.311-108G>C
ENST00000479719.5:c.550G>C	ENSP00000420754.1:p.Glu184Gln
ENST00000497791.5:c.*222G>C	ENSP00000419121.1:n.*222G>C
ENST00000498715.1:n.268G>C
NM_000373.3:c.550G>C	NP_000364.1:p.Glu184Gln
NR_033434.1:n.502G>C
NR_033437.1:n.755G>C
XR_001740253.2:n.580G>C
NM_000373.4:c.550G>C MANE Select	NP_000364.1:p.Glu184Gln
NR_033434.2:n.416G>C
NR_033437.2:n.669G>C