Canonical Allele Identifier: CA354272918

Gene: UMPS

Linked Data

• MyVariant Identifiers: chr3:g.124456478T>A (hg19) ; chr3:g.124737631T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.124737631T>A , CM000665.2:g.124737631T>A	GRCh38
NC_000003.11:g.124456478T>A , CM000665.1:g.124456478T>A	GRCh37
NC_000003.10:g.125939168T>A	NCBI36
NG_017037.1:g.12266T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000232607.7:c.374T>A MANE Select	ENSP00000232607.2:p.Val125Asp
ENST00000232607.6:c.374T>A	ENSP00000232607.2:p.Val125Asp
ENST00000460034.5:c.*118T>A	ENSP00000420409.1:n.*118T>A
ENST00000462091.5:c.*46T>A	ENSP00000417893.1:n.*46T>A
ENST00000467167.5:c.*272T>A	ENSP00000419618.1:n.*272T>A
ENST00000474588.5:c.311-284T>A	ENSP00000420348.1:n.311-284T>A
ENST00000479719.5:c.374T>A	ENSP00000420754.1:p.Val125Asp
ENST00000497791.5:c.*46T>A	ENSP00000419121.1:n.*46T>A
ENST00000498715.1:n.92T>A
NM_000373.3:c.374T>A	NP_000364.1:p.Val125Asp
NR_033434.1:n.326T>A
NR_033437.1:n.579T>A
XR_001740253.2:n.404T>A
NM_000373.4:c.374T>A MANE Select	NP_000364.1:p.Val125Asp
NR_033434.2:n.240T>A
NR_033437.2:n.493T>A