Canonical Allele Identifier: CA2581791

Gene: UMPS

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.124740093T>C , CM000665.2:g.124740093T>C	GRCh38
NC_000003.11:g.124458940T>C , CM000665.1:g.124458940T>C	GRCh37
NC_000003.10:g.125941630T>C	NCBI36
NG_017037.1:g.14728T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000373.4:c.1052T>C MANE Select	NP_000364.1:p.Val351Ala
ENST00000232607.7:c.1052T>C MANE Select	ENSP00000232607.2:p.Val351Ala
NM_000373.3:c.1052T>C	NP_000364.1:p.Val351Ala
NR_033434.1:n.1004T>C
NR_033434.2:n.918T>C
NR_033437.1:n.1257T>C
NR_033437.2:n.1171T>C
ENST00000232607.6:c.1052T>C	ENSP00000232607.2:p.Val351Ala
ENST00000460034.5:c.*796T>C	ENSP00000420409.1:n.*796T>C
ENST00000462091.5:c.*724T>C	ENSP00000417893.1:n.*724T>C
ENST00000467167.5:c.*950T>C	ENSP00000419618.1:n.*950T>C
ENST00000474588.5:c.*276T>C	ENSP00000420348.1:n.*276T>C
ENST00000479719.5:c.*227T>C	ENSP00000420754.1:n.*227T>C
ENST00000487622.5:n.179T>C
ENST00000495751.1:n.181T>C
ENST00000497791.5:c.*654+1854T>C	ENSP00000419121.1:n.*654+1854T>C
XR_001740253.2:n.1286T>C