Canonical Allele Identifier: CA8158831
Community Standard Title: NM_001361.5(DHODH):c.983C>T (p.Pro328Leu)
Gene: DHODH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.72023483C>T , CM000678.2:g.72023483C>T GRCh38
NC_000016.9:g.72057382C>T , CM000678.1:g.72057382C>T GRCh37
NC_000016.8:g.70614883C>T NCBI36
NG_016271.1:g.19740C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001361.5:c.983C>T MANE Select NP_001352.2:p.Pro328Leu
ENST00000219240.9:c.983C>T MANE Select ENSP00000219240.4:p.Pro328Leu
NM_001361.4:c.983C>T NP_001352.2:p.Pro328Leu
ENST00000219240.8:c.983C>T ENSP00000219240.4:p.Pro328Leu
ENST00000571392.1:n.1647C>T
ENST00000572887.5:c.977C>T ENSP00000461848.1:p.Pro326Leu
ENST00000574309.5:c.514-662C>T
XM_005255827.2:c.899C>T XP_005255884.1:p.Pro300Leu
XM_005255827.4:c.899C>T XP_005255884.1:p.Pro300Leu
XM_005255828.3:c.575C>T XP_005255885.1:p.Pro192Leu
XM_005255829.2:c.554C>T XP_005255886.1:p.Pro185Leu
XM_005255829.4:c.554C>T XP_005255886.1:p.Pro185Leu
XM_017022990.2:c.656C>T XP_016878479.1:p.Pro219Leu