Canonical Allele Identifier: CA354273008

Gene: UMPS

Linked Data

• MyVariant Identifiers: chr3:g.124456498G>T (hg19) ; chr3:g.124737651G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.124737651G>T , CM000665.2:g.124737651G>T	GRCh38
NC_000003.11:g.124456498G>T , CM000665.1:g.124456498G>T	GRCh37
NC_000003.10:g.125939188G>T	NCBI36
NG_017037.1:g.12286G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000232607.7:c.394G>T MANE Select	ENSP00000232607.2:p.Val132Phe
ENST00000232607.6:c.394G>T	ENSP00000232607.2:p.Val132Phe
ENST00000460034.5:c.*138G>T	ENSP00000420409.1:n.*138G>T
ENST00000462091.5:c.*66G>T	ENSP00000417893.1:n.*66G>T
ENST00000467167.5:c.*292G>T	ENSP00000419618.1:n.*292G>T
ENST00000474588.5:c.311-264G>T	ENSP00000420348.1:n.311-264G>T
ENST00000479719.5:c.394G>T	ENSP00000420754.1:p.Val132Phe
ENST00000497791.5:c.*66G>T	ENSP00000419121.1:n.*66G>T
ENST00000498715.1:n.112G>T
NM_000373.3:c.394G>T	NP_000364.1:p.Val132Phe
NR_033434.1:n.346G>T
NR_033437.1:n.599G>T
XR_001740253.2:n.424G>T
NM_000373.4:c.394G>T MANE Select	NP_000364.1:p.Val132Phe
NR_033434.2:n.260G>T
NR_033437.2:n.513G>T