Canonical Allele Identifier: CA354272915

Gene: UMPS

Linked Data

• gnomAD v4: 3-124737630-G-T
• MyVariant Identifiers: chr3:g.124456477G>T (hg19) ; chr3:g.124737630G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.124737630G>T , CM000665.2:g.124737630G>T	GRCh38
NC_000003.11:g.124456477G>T , CM000665.1:g.124456477G>T	GRCh37
NC_000003.10:g.125939167G>T	NCBI36
NG_017037.1:g.12265G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000232607.7:c.373G>T MANE Select	ENSP00000232607.2:p.Val125Phe
ENST00000232607.6:c.373G>T	ENSP00000232607.2:p.Val125Phe
ENST00000460034.5:c.*117G>T	ENSP00000420409.1:n.*117G>T
ENST00000462091.5:c.*45G>T	ENSP00000417893.1:n.*45G>T
ENST00000467167.5:c.*271G>T	ENSP00000419618.1:n.*271G>T
ENST00000474588.5:c.311-285G>T	ENSP00000420348.1:n.311-285G>T
ENST00000479719.5:c.373G>T	ENSP00000420754.1:p.Val125Phe
ENST00000497791.5:c.*45G>T	ENSP00000419121.1:n.*45G>T
ENST00000498715.1:n.91G>T
NM_000373.3:c.373G>T	NP_000364.1:p.Val125Phe
NR_033434.1:n.325G>T
NR_033437.1:n.578G>T
XR_001740253.2:n.403G>T
NM_000373.4:c.373G>T MANE Select	NP_000364.1:p.Val125Phe
NR_033434.2:n.239G>T
NR_033437.2:n.492G>T