Canonical Allele Identifier: CA354274453

Gene: UMPS

Linked Data

• MyVariant Identifiers: chr3:g.124456656G>C (hg19) ; chr3:g.124737809G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.124737809G>C , CM000665.2:g.124737809G>C	GRCh38
NC_000003.11:g.124456656G>C , CM000665.1:g.124456656G>C	GRCh37
NC_000003.10:g.125939346G>C	NCBI36
NG_017037.1:g.12444G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000232607.7:c.552G>C MANE Select	ENSP00000232607.2:p.Glu184Asp
ENST00000232607.6:c.552G>C	ENSP00000232607.2:p.Glu184Asp
ENST00000460034.5:c.*296G>C	ENSP00000420409.1:n.*296G>C
ENST00000462091.5:c.*224G>C	ENSP00000417893.1:n.*224G>C
ENST00000467167.5:c.*450G>C	ENSP00000419618.1:n.*450G>C
ENST00000474588.5:c.311-106G>C	ENSP00000420348.1:n.311-106G>C
ENST00000479719.5:c.552G>C	ENSP00000420754.1:p.Glu184Asp
ENST00000497791.5:c.*224G>C	ENSP00000419121.1:n.*224G>C
ENST00000498715.1:n.270G>C
NM_000373.3:c.552G>C	NP_000364.1:p.Glu184Asp
NR_033434.1:n.504G>C
NR_033437.1:n.757G>C
XR_001740253.2:n.582G>C
NM_000373.4:c.552G>C MANE Select	NP_000364.1:p.Glu184Asp
NR_033434.2:n.418G>C
NR_033437.2:n.671G>C