Canonical Allele Identifier: CA8158839
Community Standard Title: NM_001361.5(DHODH):c.1020C>T (p.Asp340=)
Gene: DHODH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.72023520C>T , CM000678.2:g.72023520C>T GRCh38
NC_000016.9:g.72057419C>T , CM000678.1:g.72057419C>T GRCh37
NC_000016.8:g.70614920C>T NCBI36
NG_016271.1:g.19777C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001361.5:c.1020C>T MANE Select NP_001352.2:p.Asp340=
ENST00000219240.9:c.1020C>T MANE Select ENSP00000219240.4:p.Asp340=
NM_001361.4:c.1020C>T NP_001352.2:p.Asp340=
ENST00000219240.8:c.1020C>T ENSP00000219240.4:p.Asp340=
ENST00000571392.1:n.1684C>T
ENST00000572887.5:c.1014C>T ENSP00000461848.1:p.Asp338=
ENST00000574309.5:c.514-625C>T
XM_005255827.2:c.936C>T XP_005255884.1:p.Asp312=
XM_005255827.4:c.936C>T XP_005255884.1:p.Asp312=
XM_005255828.3:c.612C>T XP_005255885.1:p.Asp204=
XM_005255829.2:c.591C>T XP_005255886.1:p.Asp197=
XM_005255829.4:c.591C>T XP_005255886.1:p.Asp197=
XM_017022990.2:c.693C>T XP_016878479.1:p.Asp231=