Canonical Allele Identifier: CA2582171
Gene: UMPS HGNC NCBI

Linked Data

ClinVar Variation Id: 343034
ClinVar RCV Id: RCV000269838
dbSNP Id: rs569255721
ExAC: 3:124467442 G / A
gnomAD v2: 3-124467442-G-A
gnomAD v3: 3-124748595-G-A
gnomAD v4: 3-124748595-G-A
MyVariant Identifiers: chr3:g.124467442G>A (hg19) chr3:g.124748595G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.124748595G>A , CM000665.2:g.124748595G>A GRCh38
NC_000003.11:g.124467442G>A , CM000665.1:g.124467442G>A GRCh37
NC_000003.10:g.125950132G>A NCBI36
NG_017037.1:g.23230G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000232607.7:c.*4511G>A MANE Select ENSP00000232607.2:n.*4511G>A
ENST00000232607.6:c.*4511G>A ENSP00000232607.2:n.*4511G>A
NM_000373.3:c.*4511G>A NP_000364.1:n.*4511G>A
NR_033434.1:n.5906G>A
NR_033437.1:n.6159G>A
XR_001740253.2:n.6188G>A
NM_000373.4:c.*4511G>A MANE Select NP_000364.1:n.*4511G>A
NR_033434.2:n.5820G>A
NR_033437.2:n.6073G>A
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