Canonical Allele Identifier: CA8158505
Gene: DHODH HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.72012084G>C
GRCh37 chr16:g.72045983G>C
Revel Score:
ENST00000219240 (MANE Select) 0.420
gnomAD v2:
16:72045983 G / C
gnomAD v3:
16:72012084 G / C
gnomAD v4:
chr16-72012084-G-C
Joint Max Group AF 0.00000443 (AFR)
Genomes Max Group AF 0.000008 (AFR)
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000219240.9:c.56G>C MANE Select ENSP00000219240.4:p.Gly19Ala
ENST00000219240.8:c.56G>C ENSP00000219240.4:p.Gly19Ala
ENST00000571288.6:c.43G>C
ENST00000572887.5:c.56G>C ENSP00000461848.1:p.Gly19Ala
ENST00000574309.5:c.52G>C
ENST00000576145.1:c.-29G>C ENSP00000464333.1:n.-29G>C
NM_001361.4:c.56G>C NP_001352.2:p.Gly19Ala
XM_005255827.2:c.-29G>C XP_005255884.1:n.-29G>C
XM_005255827.4:c.-29G>C XP_005255884.1:n.-29G>C
XM_017022990.2:c.-373G>C XP_016878479.1:n.-373G>C
NM_001361.5:c.56G>C MANE Select NP_001352.2:p.Gly19Ala
Search 100 bp 5'
Search 100 bp 3'