Canonical Allele Identifier: CA8158807
Gene: DHODH HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.72023294C>T
GRCh37 chr16:g.72057193C>T
Revel Score:
ENST00000219240 (MANE Select) 0.645
gnomAD v2:
16:72057193 C / T
gnomAD v3:
16:72023294 C / T
gnomAD v4:
chr16-72023294-C-T
Joint Max Group AF 0.00152922 (NFE)
Genomes Max Group AF 0.00104829 (NFE)
Exomes Max Group AF 0.0015473 (NFE)
ClinVar RCV:
RCV000331720
RCV001351702
ClinVar Variation:
320437
dbSNP:
192923495
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.72023294C>T , CM000678.2:g.72023294C>T GRCh38
NC_000016.9:g.72057193C>T , CM000678.1:g.72057193C>T GRCh37
NC_000016.8:g.70614694C>T NCBI36
NG_016271.1:g.19551C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000219240.9:c.949C>T MANE Select ENSP00000219240.4:p.Arg317Trp
ENST00000219240.8:c.949C>T ENSP00000219240.4:p.Arg317Trp
ENST00000571392.1:n.1614C>T
ENST00000572887.5:c.949C>T ENSP00000461848.1:p.Arg317Trp
ENST00000574309.5:c.514-851C>T
NM_001361.4:c.949C>T NP_001352.2:p.Arg317Trp
XM_005255827.2:c.865C>T XP_005255884.1:p.Arg289Trp
XM_005255828.3:c.541C>T XP_005255885.1:p.Arg181Trp
XM_005255829.2:c.520C>T XP_005255886.1:p.Arg174Trp
XM_005255827.4:c.865C>T XP_005255884.1:p.Arg289Trp
XM_005255829.4:c.520C>T XP_005255886.1:p.Arg174Trp
XM_017022990.2:c.622C>T XP_016878479.1:p.Arg208Trp
NM_001361.5:c.949C>T MANE Select NP_001352.2:p.Arg317Trp
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