Canonical Allele Identifier: CA354272786

Gene: UMPS

Linked Data

• MyVariant Identifiers: chr3:g.124456453G>T (hg19) ; chr3:g.124737606G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.124737606G>T , CM000665.2:g.124737606G>T	GRCh38
NC_000003.11:g.124456453G>T , CM000665.1:g.124456453G>T	GRCh37
NC_000003.10:g.125939143G>T	NCBI36
NG_017037.1:g.12241G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000232607.7:c.349G>T MANE Select	ENSP00000232607.2:p.Glu117Ter
ENST00000232607.6:c.349G>T	ENSP00000232607.2:p.Glu117Ter
ENST00000460034.5:c.*93G>T	ENSP00000420409.1:n.*93G>T
ENST00000462091.5:c.*21G>T	ENSP00000417893.1:n.*21G>T
ENST00000467167.5:c.*247G>T	ENSP00000419618.1:n.*247G>T
ENST00000474588.5:c.311-309G>T	ENSP00000420348.1:n.311-309G>T
ENST00000479719.5:c.349G>T	ENSP00000420754.1:p.Glu117Ter
ENST00000497791.5:c.*21G>T	ENSP00000419121.1:n.*21G>T
ENST00000498715.1:n.67G>T
NM_000373.3:c.349G>T	NP_000364.1:p.Glu117Ter
NR_033434.1:n.301G>T
NR_033437.1:n.554G>T
XR_001740253.2:n.379G>T
NM_000373.4:c.349G>T MANE Select	NP_000364.1:p.Glu117Ter
NR_033434.2:n.215G>T
NR_033437.2:n.468G>T