Canonical Allele Identifier: CA126898
Gene: DHODH HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.72012084G>A
GRCh37 chr16:g.72045983G>A
Revel Score:
ENST00000219240 (MANE Select) 0.812
gnomAD v2:
16:72045983 G / A
gnomAD v3:
16:72012084 G / A
gnomAD v4:
chr16-72012084-G-A
Joint Max Group AF 0.00016624 (AMR)
Exomes Max Group AF 0.00020649 (AMR)
ClinVar RCV:
RCV000018293
RCV000386653
ClinVar Variation:
16802
dbSNP:
267606765
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.72012084G>A , CM000678.2:g.72012084G>A GRCh38
NC_000016.9:g.72045983G>A , CM000678.1:g.72045983G>A GRCh37
NC_000016.8:g.70603484G>A NCBI36
NG_016271.1:g.8341G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000219240.9:c.56G>A MANE Select ENSP00000219240.4:p.Gly19Glu
ENST00000219240.8:c.56G>A ENSP00000219240.4:p.Gly19Glu
ENST00000571288.6:c.43G>A
ENST00000572887.5:c.56G>A ENSP00000461848.1:p.Gly19Glu
ENST00000574309.5:c.52G>A
ENST00000576145.1:c.-29G>A ENSP00000464333.1:n.-29G>A
NM_001361.4:c.56G>A NP_001352.2:p.Gly19Glu
XM_005255827.2:c.-29G>A XP_005255884.1:n.-29G>A
XM_005255827.4:c.-29G>A XP_005255884.1:n.-29G>A
XM_017022990.2:c.-373G>A XP_016878479.1:n.-373G>A
NM_001361.5:c.56G>A MANE Select NP_001352.2:p.Gly19Glu
Search 100 bp 5'
Search 100 bp 3'