Canonical Allele Identifier: CA2667352164

Gene: UMPS

Linked Data

• gnomAD v4: 3-124737436-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.124737436G>T , CM000665.2:g.124737436G>T	GRCh38
NC_000003.11:g.124456283G>T , CM000665.1:g.124456283G>T	GRCh37
NC_000003.10:g.125938973G>T	NCBI36
NG_017037.1:g.12071G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000232607.7:c.311-132G>T MANE Select	ENSP00000232607.2:n.311-132G>T
ENST00000232607.6:c.311-132G>T	ENSP00000232607.2:n.311-132G>T
ENST00000460034.5:c.*55-132G>T	ENSP00000420409.1:n.*55-132G>T
ENST00000462091.5:c.157-132G>T	ENSP00000417893.1:n.157-132G>T
ENST00000467167.5:c.*209-132G>T	ENSP00000419618.1:n.*209-132G>T
ENST00000474588.5:c.311-479G>T	ENSP00000420348.1:n.311-479G>T
ENST00000479719.5:c.311-132G>T	ENSP00000420754.1:n.311-132G>T
ENST00000497791.5:c.157-132G>T	ENSP00000419121.1:n.157-132G>T
ENST00000498715.1:n.29-132G>T
NM_000373.3:c.311-132G>T	NP_000364.1:n.311-132G>T
NR_033434.1:n.263-132G>T
NR_033437.1:n.516-132G>T
XR_001740253.2:n.341-132G>T
NM_000373.4:c.311-132G>T MANE Select	NP_000364.1:n.311-132G>T
NR_033434.2:n.177-132G>T
NR_033437.2:n.430-132G>T