Canonical Allele Identifier: CA228196

Gene: UMPS

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.124740091T>A , CM000665.2:g.124740091T>A	GRCh38
NC_000003.11:g.124458938T>A , CM000665.1:g.124458938T>A	GRCh37
NC_000003.10:g.125941628T>A	NCBI36
NG_017037.1:g.14726T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000232607.7:c.1050T>A MANE Select	ENSP00000232607.2:p.Val350=
ENST00000232607.6:c.1050T>A	ENSP00000232607.2:p.Val350=
ENST00000460034.5:c.*794T>A	ENSP00000420409.1:n.*794T>A
ENST00000462091.5:c.*722T>A	ENSP00000417893.1:n.*722T>A
ENST00000467167.5:c.*948T>A	ENSP00000419618.1:n.*948T>A
ENST00000474588.5:c.*274T>A	ENSP00000420348.1:n.*274T>A
ENST00000479719.5:c.*225T>A	ENSP00000420754.1:n.*225T>A
ENST00000487622.5:n.177T>A
ENST00000495751.1:n.179T>A
ENST00000497791.5:c.*654+1852T>A	ENSP00000419121.1:n.*654+1852T>A
NM_000373.3:c.1050T>A	NP_000364.1:p.Val350=
NR_033434.1:n.1002T>A
NR_033437.1:n.1255T>A
XR_001740253.2:n.1284T>A
NM_000373.4:c.1050T>A MANE Select	NP_000364.1:p.Val350=
NR_033434.2:n.916T>A
NR_033437.2:n.1169T>A