Canonical Allele Identifier: CA435434403

Gene: UMPS

Linked Data

• MyVariant Identifiers: chr3:g.124456521T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.124737674T>G , CM000665.2:g.124737674T>G	GRCh38
NC_000003.11:g.124456521T>G , CM000665.1:g.124456521T>G	GRCh37
NC_000003.10:g.125939211T>G	NCBI36
NG_017037.1:g.12309T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000232607.7:c.417T>G MANE Select	ENSP00000232607.2:p.Leu139=
ENST00000232607.6:c.417T>G	ENSP00000232607.2:p.Leu139=
ENST00000460034.5:c.*161T>G	ENSP00000420409.1:n.*161T>G
ENST00000462091.5:c.*89T>G	ENSP00000417893.1:n.*89T>G
ENST00000467167.5:c.*315T>G	ENSP00000419618.1:n.*315T>G
ENST00000474588.5:c.311-241T>G	ENSP00000420348.1:n.311-241T>G
ENST00000479719.5:c.417T>G	ENSP00000420754.1:p.Leu139=
ENST00000497791.5:c.*89T>G	ENSP00000419121.1:n.*89T>G
ENST00000498715.1:n.135T>G
NM_000373.3:c.417T>G	NP_000364.1:p.Leu139=
NR_033434.1:n.369T>G
NR_033437.1:n.622T>G
XR_001740253.2:n.447T>G
NM_000373.4:c.417T>G MANE Select	NP_000364.1:p.Leu139=
NR_033434.2:n.283T>G
NR_033437.2:n.536T>G