Canonical Allele Identifier: CA435434479

Gene: UMPS

Linked Data

• MyVariant Identifiers: chr3:g.124456545T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.124737698T>G , CM000665.2:g.124737698T>G	GRCh38
NC_000003.11:g.124456545T>G , CM000665.1:g.124456545T>G	GRCh37
NC_000003.10:g.125939235T>G	NCBI36
NG_017037.1:g.12333T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000232607.7:c.441T>G MANE Select	ENSP00000232607.2:p.Thr147=
ENST00000232607.6:c.441T>G	ENSP00000232607.2:p.Thr147=
ENST00000460034.5:c.*185T>G	ENSP00000420409.1:n.*185T>G
ENST00000462091.5:c.*113T>G	ENSP00000417893.1:n.*113T>G
ENST00000467167.5:c.*339T>G	ENSP00000419618.1:n.*339T>G
ENST00000474588.5:c.311-217T>G	ENSP00000420348.1:n.311-217T>G
ENST00000479719.5:c.441T>G	ENSP00000420754.1:p.Thr147=
ENST00000497791.5:c.*113T>G	ENSP00000419121.1:n.*113T>G
ENST00000498715.1:n.159T>G
NM_000373.3:c.441T>G	NP_000364.1:p.Thr147=
NR_033434.1:n.393T>G
NR_033437.1:n.646T>G
XR_001740253.2:n.471T>G
NM_000373.4:c.441T>G MANE Select	NP_000364.1:p.Thr147=
NR_033434.2:n.307T>G
NR_033437.2:n.560T>G