Canonical Allele Identifier: CA354274332

Gene: UMPS

Linked Data

• MyVariant Identifiers: chr3:g.124456643T>A (hg19) ; chr3:g.124737796T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.124737796T>A , CM000665.2:g.124737796T>A	GRCh38
NC_000003.11:g.124456643T>A , CM000665.1:g.124456643T>A	GRCh37
NC_000003.10:g.125939333T>A	NCBI36
NG_017037.1:g.12431T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000232607.7:c.539T>A MANE Select	ENSP00000232607.2:p.Leu180Gln
ENST00000232607.6:c.539T>A	ENSP00000232607.2:p.Leu180Gln
ENST00000460034.5:c.*283T>A	ENSP00000420409.1:n.*283T>A
ENST00000462091.5:c.*211T>A	ENSP00000417893.1:n.*211T>A
ENST00000467167.5:c.*437T>A	ENSP00000419618.1:n.*437T>A
ENST00000474588.5:c.311-119T>A	ENSP00000420348.1:n.311-119T>A
ENST00000479719.5:c.539T>A	ENSP00000420754.1:p.Leu180Gln
ENST00000497791.5:c.*211T>A	ENSP00000419121.1:n.*211T>A
ENST00000498715.1:n.257T>A
NM_000373.3:c.539T>A	NP_000364.1:p.Leu180Gln
NR_033434.1:n.491T>A
NR_033437.1:n.744T>A
XR_001740253.2:n.569T>A
NM_000373.4:c.539T>A MANE Select	NP_000364.1:p.Leu180Gln
NR_033434.2:n.405T>A
NR_033437.2:n.658T>A