Canonical Allele Identifier: CA126896
Gene: DHODH HGNC NCBI
COSMIC:
COSM290156
MyVariant.info:
GRCh38 chr16:g.72023536C>T
GRCh37 chr16:g.72057435C>T
Revel Score:
ENST00000219240 (MANE Select) 0.876
gnomAD v2:
16:72057435 C / T
gnomAD v3:
16:72023536 C / T
gnomAD v4:
chr16-72023536-C-T
Joint Max Group AF 0.00010201 (AMR)
Genomes Max Group AF 0.00004765 (NFE)
Exomes Max Group AF 0.0001374 (AMR)
ClinVar RCV:
RCV000018291
RCV002225267
ClinVar Variation:
16800
dbSNP:
201947120
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.72023536C>T , CM000678.2:g.72023536C>T GRCh38
NC_000016.9:g.72057435C>T , CM000678.1:g.72057435C>T GRCh37
NC_000016.8:g.70614936C>T NCBI36
NG_016271.1:g.19793C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000219240.9:c.1036C>T MANE Select ENSP00000219240.4:p.Arg346Trp
ENST00000219240.8:c.1036C>T ENSP00000219240.4:p.Arg346Trp
ENST00000571392.1:n.1700C>T
ENST00000572887.5:c.1030C>T ENSP00000461848.1:p.Arg344Trp
ENST00000574309.5:c.514-609C>T
NM_001361.4:c.1036C>T NP_001352.2:p.Arg346Trp
XM_005255827.2:c.952C>T XP_005255884.1:p.Arg318Trp
XM_005255828.3:c.628C>T XP_005255885.1:p.Arg210Trp
XM_005255829.2:c.607C>T XP_005255886.1:p.Arg203Trp
XM_005255827.4:c.952C>T XP_005255884.1:p.Arg318Trp
XM_005255829.4:c.607C>T XP_005255886.1:p.Arg203Trp
XM_017022990.2:c.709C>T XP_016878479.1:p.Arg237Trp
NM_001361.5:c.1036C>T MANE Select NP_001352.2:p.Arg346Trp
Search 100 bp 5'
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