Canonical Allele Identifier: CA2581719
Gene: UMPS HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.124738114T>C
GRCh37 chr3:g.124456961T>C
Revel Score:
ENST00000232607 (MANE Select) 0.500
ENST00000536109 0.500
ENST00000538242 0.500
ENST00000413078 0.500
gnomAD v2:
3:124456961 T / C
gnomAD v3:
3:124738114 T / C
gnomAD v4:
chr3-124738114-T-C
Joint Max Group AF 0.00006614 (AMR)
Genomes Max Group AF 0.00001918 (AFR)
Exomes Max Group AF 0.00007281 (AMR)
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000232607.7:c.857T>C MANE Select ENSP00000232607.2:p.Ile286Thr
ENST00000232607.6:c.857T>C ENSP00000232607.2:p.Ile286Thr
ENST00000460034.5:c.*601T>C ENSP00000420409.1:n.*601T>C
ENST00000462091.5:c.*529T>C ENSP00000417893.1:n.*529T>C
ENST00000467167.5:c.*755T>C ENSP00000419618.1:n.*755T>C
ENST00000474588.5:c.*81T>C ENSP00000420348.1:n.*81T>C
ENST00000479719.5:c.857T>C ENSP00000420754.1:p.Ile286Thr
ENST00000497791.5:c.*529T>C ENSP00000419121.1:n.*529T>C
ENST00000498715.1:n.575T>C
NM_000373.3:c.857T>C NP_000364.1:p.Ile286Thr
NR_033434.1:n.809T>C
NR_033437.1:n.1062T>C
XR_001740253.2:n.887T>C
NM_000373.4:c.857T>C MANE Select NP_000364.1:p.Ile286Thr
NR_033434.2:n.723T>C
NR_033437.2:n.976T>C
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