Canonical Allele Identifier: CA2581718
Gene: UMPS HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.124738114T>A
GRCh37 chr3:g.124456961T>A
Revel Score:
ENST00000232607 (MANE Select) 0.718
ENST00000536109 0.718
ENST00000538242 0.718
ENST00000413078 0.718
gnomAD v2:
3:124456961 T / A
gnomAD v3:
3:124738114 T / A
gnomAD v4:
chr3-124738114-T-A
Joint Max Group AF 0.00038391 (NFE)
Genomes Max Group AF 0.0001587 (NFE)
Exomes Max Group AF 0.00039206 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.124738114T>A , CM000665.2:g.124738114T>A GRCh38
NC_000003.11:g.124456961T>A , CM000665.1:g.124456961T>A GRCh37
NC_000003.10:g.125939651T>A NCBI36
NG_017037.1:g.12749T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000232607.7:c.857T>A MANE Select ENSP00000232607.2:p.Ile286Asn
ENST00000232607.6:c.857T>A ENSP00000232607.2:p.Ile286Asn
ENST00000460034.5:c.*601T>A ENSP00000420409.1:n.*601T>A
ENST00000462091.5:c.*529T>A ENSP00000417893.1:n.*529T>A
ENST00000467167.5:c.*755T>A ENSP00000419618.1:n.*755T>A
ENST00000474588.5:c.*81T>A ENSP00000420348.1:n.*81T>A
ENST00000479719.5:c.857T>A ENSP00000420754.1:p.Ile286Asn
ENST00000497791.5:c.*529T>A ENSP00000419121.1:n.*529T>A
ENST00000498715.1:n.575T>A
NM_000373.3:c.857T>A NP_000364.1:p.Ile286Asn
NR_033434.1:n.809T>A
NR_033437.1:n.1062T>A
XR_001740253.2:n.887T>A
NM_000373.4:c.857T>A MANE Select NP_000364.1:p.Ile286Asn
NR_033434.2:n.723T>A
NR_033437.2:n.976T>A
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