Canonical Allele Identifier: CA7882422
Community Standard Title: NM_024589.3(ROGDI):c.828C>T (p.Ser276=)
Gene: ROGDI HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.4797496G>A , CM000678.2:g.4797496G>A GRCh38
NC_000016.9:g.4847497G>A , CM000678.1:g.4847497G>A GRCh37
NC_000016.8:g.4787498G>A NCBI36
NG_032174.1:g.10455C>T , LRG_455:g.10455C>T

Transcript Alleles

HGVS Amino-acid Change
NM_024589.3:c.828C>T MANE Select NP_078865.1:p.Ser276=
ENST00000322048.12:c.828C>T MANE Select ENSP00000322832.6:p.Ser276=
NM_024589.2:c.828C>T , LRG_455t1:c.828C>T NP_078865.1:p.Ser276=
NR_046480.1:n.1152C>T
NR_046480.2:n.835C>T
ENST00000322048.11:c.828C>T ENSP00000322832.5:p.Ser276=
ENST00000586504.5:c.558C>T
ENST00000587377.5:c.*148C>T ENSP00000468343.1:n.*148C>T
ENST00000587843.5:c.*566C>T ENSP00000465970.1:n.*566C>T
ENST00000588201.5:c.*819C>T ENSP00000466529.1:n.*819C>T
ENST00000591292.5:n.2157C>T
ENST00000592019.1:c.184C>T
XM_006720947.2:c.849C>T XP_006721010.1:p.Ser283=
XM_006720947.4:c.849C>T XP_006721010.1:p.Ser283=
XM_006720948.2:c.579C>T XP_006721011.1:p.Ser193=
XM_006720948.4:c.579C>T XP_006721011.1:p.Ser193=