Canonical Allele Identifier: CA354272820

Gene: UMPS

Linked Data

• MyVariant Identifiers: chr3:g.124456460G>C (hg19) ; chr3:g.124737613G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.124737613G>C , CM000665.2:g.124737613G>C	GRCh38
NC_000003.11:g.124456460G>C , CM000665.1:g.124456460G>C	GRCh37
NC_000003.10:g.125939150G>C	NCBI36
NG_017037.1:g.12248G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000232607.7:c.356G>C MANE Select	ENSP00000232607.2:p.Cys119Ser
ENST00000232607.6:c.356G>C	ENSP00000232607.2:p.Cys119Ser
ENST00000460034.5:c.*100G>C	ENSP00000420409.1:n.*100G>C
ENST00000462091.5:c.*28G>C	ENSP00000417893.1:n.*28G>C
ENST00000467167.5:c.*254G>C	ENSP00000419618.1:n.*254G>C
ENST00000474588.5:c.311-302G>C	ENSP00000420348.1:n.311-302G>C
ENST00000479719.5:c.356G>C	ENSP00000420754.1:p.Cys119Ser
ENST00000497791.5:c.*28G>C	ENSP00000419121.1:n.*28G>C
ENST00000498715.1:n.74G>C
NM_000373.3:c.356G>C	NP_000364.1:p.Cys119Ser
NR_033434.1:n.308G>C
NR_033437.1:n.561G>C
XR_001740253.2:n.386G>C
NM_000373.4:c.356G>C MANE Select	NP_000364.1:p.Cys119Ser
NR_033434.2:n.222G>C
NR_033437.2:n.475G>C