Canonical Allele Identifier: CA126897
Gene: DHODH HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.72014641C>T
GRCh37 chr16:g.72048540C>T
Revel Score:
ENST00000219240 (MANE Select) 0.901
gnomAD v2:
16:72048540 C / T
gnomAD v3:
16:72014641 C / T
gnomAD v4:
chr16-72014641-C-T
Joint Max Group AF 0.000527 (NFE)
Genomes Max Group AF 0.00035401 (AMR)
Exomes Max Group AF 0.00053585 (NFE)
ClinVar RCV:
RCV000018292
RCV000316778
ClinVar Variation:
16801
dbSNP:
201230446
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.72014641C>T , CM000678.2:g.72014641C>T GRCh38
NC_000016.9:g.72048540C>T , CM000678.1:g.72048540C>T GRCh37
NC_000016.8:g.70606041C>T NCBI36
NG_016271.1:g.10898C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000219240.9:c.403C>T MANE Select ENSP00000219240.4:p.Arg135Cys
ENST00000219240.8:c.403C>T ENSP00000219240.4:p.Arg135Cys
ENST00000571288.6:c.577C>T
ENST00000572003.5:n.223C>T
ENST00000572887.5:c.403C>T ENSP00000461848.1:p.Arg135Cys
ENST00000573843.1:n.191C>T
ENST00000573922.5:n.199C>T
ENST00000574309.5:c.399C>T
ENST00000576145.1:c.319C>T ENSP00000464333.1:p.Arg107Cys
NM_001361.4:c.403C>T NP_001352.2:p.Arg135Cys
XM_005255827.2:c.319C>T XP_005255884.1:p.Arg107Cys
XM_005255827.4:c.319C>T XP_005255884.1:p.Arg107Cys
XM_005255829.4:c.-202C>T XP_005255886.1:n.-202C>T
XM_017022990.2:c.76C>T XP_016878479.1:p.Arg26Cys
NM_001361.5:c.403C>T MANE Select NP_001352.2:p.Arg135Cys
Search 100 bp 5'
Search 100 bp 3'