Canonical Allele Identifier: CA354272769

Gene: UMPS

Linked Data

• MyVariant Identifiers: chr3:g.124456450G>T (hg19) ; chr3:g.124737603G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.124737603G>T , CM000665.2:g.124737603G>T	GRCh38
NC_000003.11:g.124456450G>T , CM000665.1:g.124456450G>T	GRCh37
NC_000003.10:g.125939140G>T	NCBI36
NG_017037.1:g.12238G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000232607.7:c.346G>T MANE Select	ENSP00000232607.2:p.Gly116Ter
ENST00000232607.6:c.346G>T	ENSP00000232607.2:p.Gly116Ter
ENST00000460034.5:c.*90G>T	ENSP00000420409.1:n.*90G>T
ENST00000462091.5:c.*18G>T	ENSP00000417893.1:n.*18G>T
ENST00000467167.5:c.*244G>T	ENSP00000419618.1:n.*244G>T
ENST00000474588.5:c.311-312G>T	ENSP00000420348.1:n.311-312G>T
ENST00000479719.5:c.346G>T	ENSP00000420754.1:p.Gly116Ter
ENST00000497791.5:c.*18G>T	ENSP00000419121.1:n.*18G>T
ENST00000498715.1:n.64G>T
NM_000373.3:c.346G>T	NP_000364.1:p.Gly116Ter
NR_033434.1:n.298G>T
NR_033437.1:n.551G>T
XR_001740253.2:n.376G>T
NM_000373.4:c.346G>T MANE Select	NP_000364.1:p.Gly116Ter
NR_033434.2:n.212G>T
NR_033437.2:n.465G>T