Canonical Allele Identifier: CA1377913
Gene: UTP25 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.209842605T>C
GRCh37 chr1:g.210015950T>C
Revel Score:
ENST00000491415 (MANE Select) 0.023
gnomAD v2:
1:210015950 T / C
gnomAD v3:
1:209842605 T / C
gnomAD v4:
chr1-209842605-T-C
Joint Max Group AF 0.00031725 (AMR)
Genomes Max Group AF 0.00045221 (AMR)
Exomes Max Group AF 0.00020671 (AMR)
ClinVar Allele:
2447225
ClinVar RCV:
RCV004262521
ClinVar Variation:
2464494
dbSNP:
759849571
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.209842605T>C , CM000663.2:g.209842605T>C GRCh38
NC_000001.10:g.210015950T>C , CM000663.1:g.210015950T>C GRCh37
NC_000001.9:g.208082573T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000491415.7:c.1691T>C MANE Select ENSP00000419005.1:p.Met564Thr
ENST00000457820.1:c.868T>C
ENST00000491415.6:c.1691T>C ENSP00000419005.1:p.Met564Thr
NM_014388.6:c.1691T>C NP_055203.4:p.Met564Thr
XM_006711275.2:c.1668+158T>C XP_006711338.1:n.1668+158T>C
XM_011509418.1:c.836T>C XP_011507720.1:p.Met279Thr
XM_006711275.4:c.1668+158T>C XP_006711338.1:n.1668+158T>C
XM_011509418.3:c.836T>C XP_011507720.1:p.Met279Thr
NM_014388.7:c.1691T>C MANE Select NP_055203.4:p.Met564Thr
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