Canonical Allele Identifier: CA2582169
Gene: UMPS HGNC NCBI

Linked Data

ClinVar Variation Id: 343032
ClinVar RCV Id: RCV000305264
dbSNP Id: rs591886
ExAC: 3:124467417 G / A
gnomAD v2: 3-124467417-G-A
gnomAD v3: 3-124748570-G-A
gnomAD v4: 3-124748570-G-A
MyVariant Identifiers: chr3:g.124467417G>A (hg19) chr3:g.124748570G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.124748570G>A , CM000665.2:g.124748570G>A GRCh38
NC_000003.11:g.124467417G>A , CM000665.1:g.124467417G>A GRCh37
NC_000003.10:g.125950107G>A NCBI36
NG_017037.1:g.23205G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000232607.7:c.*4486G>A MANE Select ENSP00000232607.2:n.*4486G>A
ENST00000232607.6:c.*4486G>A ENSP00000232607.2:n.*4486G>A
NM_000373.3:c.*4486G>A NP_000364.1:n.*4486G>A
NR_033434.1:n.5881G>A
NR_033437.1:n.6134G>A
XR_001740253.2:n.6163G>A
NM_000373.4:c.*4486G>A MANE Select NP_000364.1:n.*4486G>A
NR_033434.2:n.5795G>A
NR_033437.2:n.6048G>A
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