Canonical Allele Identifier: CA435434846

Gene: UMPS

Linked Data

• MyVariant Identifiers: chr3:g.124456695G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.124737848G>T , CM000665.2:g.124737848G>T	GRCh38
NC_000003.11:g.124456695G>T , CM000665.1:g.124456695G>T	GRCh37
NC_000003.10:g.125939385G>T	NCBI36
NG_017037.1:g.12483G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000232607.7:c.591G>T MANE Select	ENSP00000232607.2:p.Val197=
ENST00000232607.6:c.591G>T	ENSP00000232607.2:p.Val197=
ENST00000460034.5:c.*335G>T	ENSP00000420409.1:n.*335G>T
ENST00000462091.5:c.*263G>T	ENSP00000417893.1:n.*263G>T
ENST00000467167.5:c.*489G>T	ENSP00000419618.1:n.*489G>T
ENST00000474588.5:c.311-67G>T	ENSP00000420348.1:n.311-67G>T
ENST00000479719.5:c.591G>T	ENSP00000420754.1:p.Val197=
ENST00000497791.5:c.*263G>T	ENSP00000419121.1:n.*263G>T
ENST00000498715.1:n.309G>T
NM_000373.3:c.591G>T	NP_000364.1:p.Val197=
NR_033434.1:n.543G>T
NR_033437.1:n.796G>T
XR_001740253.2:n.621G>T
NM_000373.4:c.591G>T MANE Select	NP_000364.1:p.Val197=
NR_033434.2:n.457G>T
NR_033437.2:n.710G>T