Canonical Allele Identifier: CA126901
Gene: DHODH HGNC NCBI
COSMIC:
COSM139023
MyVariant.info:
GRCh38 chr16:g.72021211G>A
GRCh37 chr16:g.72055110G>A
Revel Score:
ENST00000219240 (MANE Select) 0.815
gnomAD v2:
16:72055110 G / A
gnomAD v3:
16:72021211 G / A
gnomAD v4:
chr16-72021211-G-A
Joint Max Group AF 0.00004949 (NFE)
Genomes Max Group AF 0.00004766 (NFE)
Exomes Max Group AF 0.00004702 (NFE)
ClinVar RCV:
RCV000018296
ClinVar Variation:
16805
dbSNP:
267606767
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.72021211G>A , CM000678.2:g.72021211G>A GRCh38
NC_000016.9:g.72055110G>A , CM000678.1:g.72055110G>A GRCh37
NC_000016.8:g.70612611G>A NCBI36
NG_016271.1:g.17468G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000219240.9:c.605G>A MANE Select ENSP00000219240.4:p.Gly202Asp
ENST00000219240.8:c.605G>A ENSP00000219240.4:p.Gly202Asp
ENST00000571392.1:n.1485-1954G>A
ENST00000572003.5:n.522G>A
ENST00000572887.5:c.605G>A ENSP00000461848.1:p.Gly202Asp
ENST00000573922.5:n.314-1954G>A
ENST00000574309.5:c.514-2934G>A
NM_001361.4:c.605G>A NP_001352.2:p.Gly202Asp
XM_005255827.2:c.521G>A XP_005255884.1:p.Gly174Asp
XM_005255828.3:c.197G>A XP_005255885.1:p.Gly66Asp
XM_005255829.2:c.176G>A XP_005255886.1:p.Gly59Asp
XM_005255827.4:c.521G>A XP_005255884.1:p.Gly174Asp
XM_005255829.4:c.176G>A XP_005255886.1:p.Gly59Asp
XM_017022990.2:c.278G>A XP_016878479.1:p.Gly93Asp
NM_001361.5:c.605G>A MANE Select NP_001352.2:p.Gly202Asp
Search 100 bp 5'
Search 100 bp 3'