Canonical Allele Identifier: CA2581906

Gene: UMPS

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.124744121C>T , CM000665.2:g.124744121C>T	GRCh38
NC_000003.11:g.124462968C>T , CM000665.1:g.124462968C>T	GRCh37
NC_000003.10:g.125945658C>T	NCBI36
NG_017037.1:g.18756C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000373.4:c.*37C>T MANE Select	NP_000364.1:n.*37C>T
ENST00000232607.7:c.*37C>T MANE Select	ENSP00000232607.2:n.*37C>T
NM_000373.3:c.*37C>T	NP_000364.1:n.*37C>T
NR_033434.1:n.1432C>T
NR_033434.2:n.1346C>T
NR_033437.1:n.1685C>T
NR_033437.2:n.1599C>T
ENST00000232607.6:c.*37C>T	ENSP00000232607.2:n.*37C>T
ENST00000460034.5:c.*1224C>T	ENSP00000420409.1:n.*1224C>T
ENST00000462091.5:c.*1152C>T	ENSP00000417893.1:n.*1152C>T
ENST00000467167.5:c.*1378C>T	ENSP00000419618.1:n.*1378C>T
ENST00000474588.5:c.*704C>T	ENSP00000420348.1:n.*704C>T
ENST00000479719.5:c.*655C>T	ENSP00000420754.1:n.*655C>T
ENST00000497791.5:c.*861C>T	ENSP00000419121.1:n.*861C>T
XR_001740253.2:n.1714C>T