Canonical Allele Identifier: CA396686590
Community Standard Title: NM_001361.5(DHODH):c.952G>T (p.Glu318Ter)
Gene: DHODH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.72023297G>T , CM000678.2:g.72023297G>T GRCh38
NC_000016.9:g.72057196G>T , CM000678.1:g.72057196G>T GRCh37
NC_000016.8:g.70614697G>T NCBI36
NG_016271.1:g.19554G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001361.5:c.952G>T MANE Select NP_001352.2:p.Glu318Ter
ENST00000219240.9:c.952G>T MANE Select ENSP00000219240.4:p.Glu318Ter
NM_001361.4:c.952G>T NP_001352.2:p.Glu318Ter
ENST00000219240.8:c.952G>T ENSP00000219240.4:p.Glu318Ter
ENST00000571392.1:n.1617G>T
ENST00000572887.5:c.952G>T ENSP00000461848.1:p.Glu318Ter
ENST00000574309.5:c.514-848G>T
XM_005255827.2:c.868G>T XP_005255884.1:p.Glu290Ter
XM_005255827.4:c.868G>T XP_005255884.1:p.Glu290Ter
XM_005255828.3:c.544G>T XP_005255885.1:p.Glu182Ter
XM_005255829.2:c.523G>T XP_005255886.1:p.Glu175Ter
XM_005255829.4:c.523G>T XP_005255886.1:p.Glu175Ter
XM_017022990.2:c.625G>T XP_016878479.1:p.Glu209Ter