Canonical Allele Identifier: CA1398971000

Gene: UMPS

Linked Data

• dbSNP Id: rs766877164

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.124737518A>T , CM000665.2:g.124737518A>T	GRCh38
NC_000003.11:g.124456365A>T , CM000665.1:g.124456365A>T	GRCh37
NC_000003.10:g.125939055A>T	NCBI36
NG_017037.1:g.12153A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000232607.7:c.311-50A>T MANE Select	ENSP00000232607.2:n.311-50A>T
ENST00000232607.6:c.311-50A>T	ENSP00000232607.2:n.311-50A>T
ENST00000460034.5:c.*55-50A>T	ENSP00000420409.1:n.*55-50A>T
ENST00000462091.5:c.157-50A>T	ENSP00000417893.1:n.157-50A>T
ENST00000467167.5:c.*209-50A>T	ENSP00000419618.1:n.*209-50A>T
ENST00000474588.5:c.311-397A>T	ENSP00000420348.1:n.311-397A>T
ENST00000479719.5:c.311-50A>T	ENSP00000420754.1:n.311-50A>T
ENST00000497791.5:c.157-50A>T	ENSP00000419121.1:n.157-50A>T
ENST00000498715.1:n.29-50A>T
NM_000373.3:c.311-50A>T	NP_000364.1:n.311-50A>T
NR_033434.1:n.263-50A>T
NR_033437.1:n.516-50A>T
XR_001740253.2:n.341-50A>T
NM_000373.4:c.311-50A>T MANE Select	NP_000364.1:n.311-50A>T
NR_033434.2:n.177-50A>T
NR_033437.2:n.430-50A>T