Canonical Allele Identifier: CA152569
Gene: DHODH HGNC NCBI
COSMIC:
COSM1379664 (not active)
MyVariant.info:
GRCh38 chr16:g.72008783A>C
GRCh37 chr16:g.72042682A>C
Revel Score:
ENST00000219240 (MANE Select) 0.357
gnomAD v2:
16:72042682 A / C
gnomAD v3:
16:72008783 A / C
gnomAD v4:
chr16-72008783-A-C
Joint Max Group AF 0.71088765 (EAS)
Genomes Max Group AF 0.73516626 (EAS)
Exomes Max Group AF 0.70506163 (EAS)
ClinVar Allele:
134342
ClinVar RCV:
RCV000116875
RCV000321810
RCV001675621
ClinVar Variation:
128895
dbSNP:
3213422
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.72008783A>C , CM000678.2:g.72008783A>C GRCh38
NC_000016.9:g.72042682A>C , CM000678.1:g.72042682A>C GRCh37
NC_000016.8:g.70600183A>C NCBI36
NG_016271.1:g.5040A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000219240.9:c.19A>C MANE Select ENSP00000219240.4:p.Lys7Gln
ENST00000219240.8:c.19A>C ENSP00000219240.4:p.Lys7Gln
ENST00000571288.6:c.6A>C
ENST00000572887.5:c.19A>C ENSP00000461848.1:p.Lys7Gln
ENST00000574309.5:c.15A>C
NM_001361.4:c.19A>C NP_001352.2:p.Lys7Gln
XM_017022990.2:c.-410A>C XP_016878479.1:n.-410A>C
NM_001361.5:c.19A>C MANE Select NP_001352.2:p.Lys7Gln
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