Canonical Allele Identifier: CA2582132
Gene: UMPS HGNC NCBI

Linked Data

ClinVar Variation Id: 343013
ClinVar RCV Id: RCV000357464
dbSNP Id: rs768769772
ExAC: 3:124466632 C / T
gnomAD v2: 3-124466632-C-T
gnomAD v3: 3-124747785-C-T
gnomAD v4: 3-124747785-C-T
MyVariant Identifiers: chr3:g.124466632C>T (hg19) chr3:g.124747785C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.124747785C>T , CM000665.2:g.124747785C>T GRCh38
NC_000003.11:g.124466632C>T , CM000665.1:g.124466632C>T GRCh37
NC_000003.10:g.125949322C>T NCBI36
NG_017037.1:g.22420C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000232607.7:c.*3701C>T MANE Select ENSP00000232607.2:n.*3701C>T
ENST00000232607.6:c.*3701C>T ENSP00000232607.2:n.*3701C>T
NM_000373.3:c.*3701C>T NP_000364.1:n.*3701C>T
NR_033434.1:n.5096C>T
NR_033437.1:n.5349C>T
XR_001740253.2:n.5378C>T
NM_000373.4:c.*3701C>T MANE Select NP_000364.1:n.*3701C>T
NR_033434.2:n.5010C>T
NR_033437.2:n.5263C>T
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