Canonical Allele Identifier: CA2582158
Gene: UMPS HGNC NCBI

Linked Data

ClinVar Variation Id: 343028
ClinVar RCV Id: RCV000406959
dbSNP Id: rs689449
ExAC: 3:124467247 C / A
gnomAD v2: 3-124467247-C-A
gnomAD v3: 3-124748400-C-A
gnomAD v4: 3-124748400-C-A
MyVariant Identifiers: chr3:g.124467247C>A (hg19) chr3:g.124748400C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.124748400C>A , CM000665.2:g.124748400C>A GRCh38
NC_000003.11:g.124467247C>A , CM000665.1:g.124467247C>A GRCh37
NC_000003.10:g.125949937C>A NCBI36
NG_017037.1:g.23035C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000232607.7:c.*4316C>A MANE Select ENSP00000232607.2:n.*4316C>A
ENST00000232607.6:c.*4316C>A ENSP00000232607.2:n.*4316C>A
NM_000373.3:c.*4316C>A NP_000364.1:n.*4316C>A
NR_033434.1:n.5711C>A
NR_033437.1:n.5964C>A
XR_001740253.2:n.5993C>A
NM_000373.4:c.*4316C>A MANE Select NP_000364.1:n.*4316C>A
NR_033434.2:n.5625C>A
NR_033437.2:n.5878C>A
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