Canonical Allele Identifier: CA10614714
Gene: UMPS HGNC NCBI

Linked Data

ClinVar Variation Id: 343009
ClinVar RCV Id: RCV000314505
dbSNP Id: rs886057891
gnomAD v3: 3-124747579-T-C
gnomAD v4: 3-124747579-T-C
MyVariant Identifiers: chr3:g.124466426T>C (hg19) chr3:g.124747579T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.124747579T>C , CM000665.2:g.124747579T>C GRCh38
NC_000003.11:g.124466426T>C , CM000665.1:g.124466426T>C GRCh37
NC_000003.10:g.125949116T>C NCBI36
NG_017037.1:g.22214T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000232607.7:c.*3495T>C MANE Select ENSP00000232607.2:n.*3495T>C
ENST00000232607.6:c.*3495T>C ENSP00000232607.2:n.*3495T>C
NM_000373.3:c.*3495T>C NP_000364.1:n.*3495T>C
NR_033434.1:n.4890T>C
NR_033437.1:n.5143T>C
XR_001740253.2:n.5172T>C
NM_000373.4:c.*3495T>C MANE Select NP_000364.1:n.*3495T>C
NR_033434.2:n.4804T>C
NR_033437.2:n.5057T>C
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