Canonical Allele Identifier: CA8158752
Gene: DHODH HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.72022409C>A
GRCh37 chr16:g.72056308C>A
gnomAD v2:
16:72056308 C / A
gnomAD v3:
16:72022409 C / A
gnomAD v4:
chr16-72022409-C-A
Joint Max Group AF 0.00032947 (NFE)
Genomes Max Group AF 0.00029248 (NFE)
Exomes Max Group AF 0.00032526 (NFE)
ClinVar RCV:
RCV000359291
RCV000977892
ClinVar Variation:
320429
dbSNP:
373893426
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.72022409C>A , CM000678.2:g.72022409C>A GRCh38
NC_000016.9:g.72056308C>A , CM000678.1:g.72056308C>A GRCh37
NC_000016.8:g.70613809C>A NCBI36
NG_016271.1:g.18666C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000219240.9:c.753C>A MANE Select ENSP00000219240.4:p.Val251=
ENST00000219240.8:c.753C>A ENSP00000219240.4:p.Val251=
ENST00000571392.1:n.1485-756C>A
ENST00000572887.5:c.753C>A ENSP00000461848.1:p.Val251=
ENST00000573922.5:n.314-756C>A
ENST00000574309.5:c.514-1736C>A
NM_001361.4:c.753C>A NP_001352.2:p.Val251=
XM_005255827.2:c.669C>A XP_005255884.1:p.Val223=
XM_005255828.3:c.345C>A XP_005255885.1:p.Val115=
XM_005255829.2:c.324C>A XP_005255886.1:p.Val108=
XM_005255827.4:c.669C>A XP_005255884.1:p.Val223=
XM_005255829.4:c.324C>A XP_005255886.1:p.Val108=
XM_017022990.2:c.426C>A XP_016878479.1:p.Val142=
NM_001361.5:c.753C>A MANE Select NP_001352.2:p.Val251=
Search 100 bp 5'
Search 100 bp 3'