Canonical Allele Identifier: CA354274367

Gene: UMPS

Linked Data

• dbSNP Id: rs1382702090
• gnomAD v2: 3-124456648-A-T
• gnomAD v4: 3-124737801-A-T
• MyVariant Identifiers: chr3:g.124456648A>T (hg19) ; chr3:g.124737801A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.124737801A>T , CM000665.2:g.124737801A>T	GRCh38
NC_000003.11:g.124456648A>T , CM000665.1:g.124456648A>T	GRCh37
NC_000003.10:g.125939338A>T	NCBI36
NG_017037.1:g.12436A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000232607.7:c.544A>T MANE Select	ENSP00000232607.2:p.Ile182Phe
ENST00000232607.6:c.544A>T	ENSP00000232607.2:p.Ile182Phe
ENST00000460034.5:c.*288A>T	ENSP00000420409.1:n.*288A>T
ENST00000462091.5:c.*216A>T	ENSP00000417893.1:n.*216A>T
ENST00000467167.5:c.*442A>T	ENSP00000419618.1:n.*442A>T
ENST00000474588.5:c.311-114A>T	ENSP00000420348.1:n.311-114A>T
ENST00000479719.5:c.544A>T	ENSP00000420754.1:p.Ile182Phe
ENST00000497791.5:c.*216A>T	ENSP00000419121.1:n.*216A>T
ENST00000498715.1:n.262A>T
NM_000373.3:c.544A>T	NP_000364.1:p.Ile182Phe
NR_033434.1:n.496A>T
NR_033437.1:n.749A>T
XR_001740253.2:n.574A>T
NM_000373.4:c.544A>T MANE Select	NP_000364.1:p.Ile182Phe
NR_033434.2:n.410A>T
NR_033437.2:n.663A>T