Canonical Allele Identifier: CA10617106
Gene: UMPS HGNC NCBI

Linked Data

ClinVar Variation Id: 342943
ClinVar RCV Id: RCV000309120
dbSNP Id: rs763914466
gnomAD v2: 3-124463745-C-T
gnomAD v3: 3-124744898-C-T
gnomAD v4: 3-124744898-C-T
MyVariant Identifiers: chr3:g.124463745C>T (hg19) chr3:g.124744898C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.124744898C>T , CM000665.2:g.124744898C>T GRCh38
NC_000003.11:g.124463745C>T , CM000665.1:g.124463745C>T GRCh37
NC_000003.10:g.125946435C>T NCBI36
NG_017037.1:g.19533C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000232607.7:c.*814C>T MANE Select ENSP00000232607.2:n.*814C>T
ENST00000232607.6:c.*814C>T ENSP00000232607.2:n.*814C>T
NM_000373.3:c.*814C>T NP_000364.1:n.*814C>T
NR_033434.1:n.2209C>T
NR_033437.1:n.2462C>T
XR_001740253.2:n.2491C>T
NM_000373.4:c.*814C>T MANE Select NP_000364.1:n.*814C>T
NR_033434.2:n.2123C>T
NR_033437.2:n.2376C>T
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