Canonical Allele Identifier: CA8158749
Community Standard Title: NM_001361.5(DHODH):c.731G>A (p.Arg244Gln)
Gene: DHODH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.72022387G>A , CM000678.2:g.72022387G>A GRCh38
NC_000016.9:g.72056286G>A , CM000678.1:g.72056286G>A GRCh37
NC_000016.8:g.70613787G>A NCBI36
NG_016271.1:g.18644G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001361.5:c.731G>A MANE Select NP_001352.2:p.Arg244Gln
ENST00000219240.9:c.731G>A MANE Select ENSP00000219240.4:p.Arg244Gln
NM_001361.4:c.731G>A NP_001352.2:p.Arg244Gln
ENST00000219240.8:c.731G>A ENSP00000219240.4:p.Arg244Gln
ENST00000571392.1:n.1485-778G>A
ENST00000572887.5:c.731G>A ENSP00000461848.1:p.Arg244Gln
ENST00000573922.5:n.314-778G>A
ENST00000574309.5:c.514-1758G>A
XM_005255827.2:c.647G>A XP_005255884.1:p.Arg216Gln
XM_005255827.4:c.647G>A XP_005255884.1:p.Arg216Gln
XM_005255828.3:c.323G>A XP_005255885.1:p.Arg108Gln
XM_005255829.2:c.302G>A XP_005255886.1:p.Arg101Gln
XM_005255829.4:c.302G>A XP_005255886.1:p.Arg101Gln
XM_017022990.2:c.404G>A XP_016878479.1:p.Arg135Gln