Canonical Allele Identifier: CA126903
Gene: DHODH HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.72021201C>T
GRCh37 chr16:g.72055100C>T
Revel Score:
ENST00000219240 (MANE Select) 0.659
gnomAD v2:
16:72055100 C / T
gnomAD v3:
16:72021201 C / T
gnomAD v4:
chr16-72021201-C-T
Joint Max Group AF 0.00002883 (SAS)
Genomes Max Group AF 0.00002847 (NFE)
Exomes Max Group AF 0.00003018 (SAS)
ClinVar Allele:
31847
ClinVar RCV:
RCV000018299
ClinVar Variation:
16808
dbSNP:
267606769
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.72021201C>T , CM000678.2:g.72021201C>T GRCh38
NC_000016.9:g.72055100C>T , CM000678.1:g.72055100C>T GRCh37
NC_000016.8:g.70612601C>T NCBI36
NG_016271.1:g.17458C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000219240.9:c.595C>T MANE Select ENSP00000219240.4:p.Arg199Cys
ENST00000219240.8:c.595C>T ENSP00000219240.4:p.Arg199Cys
ENST00000571392.1:n.1485-1964C>T
ENST00000572003.5:n.512C>T
ENST00000572887.5:c.595C>T ENSP00000461848.1:p.Arg199Cys
ENST00000573922.5:n.314-1964C>T
ENST00000574309.5:c.514-2944C>T
NM_001361.4:c.595C>T NP_001352.2:p.Arg199Cys
XM_005255827.2:c.511C>T XP_005255884.1:p.Arg171Cys
XM_005255828.3:c.187C>T XP_005255885.1:p.Arg63Cys
XM_005255829.2:c.166C>T XP_005255886.1:p.Arg56Cys
XM_005255827.4:c.511C>T XP_005255884.1:p.Arg171Cys
XM_005255829.4:c.166C>T XP_005255886.1:p.Arg56Cys
XM_017022990.2:c.268C>T XP_016878479.1:p.Arg90Cys
NM_001361.5:c.595C>T MANE Select NP_001352.2:p.Arg199Cys
Search 100 bp 5'
Search 100 bp 3'