Canonical Allele Identifier: CA394649710
Gene: ROGDI HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.4797986T>G , CM000678.2:g.4797986T>G GRCh38
NC_000016.9:g.4847987T>G , CM000678.1:g.4847987T>G GRCh37
NC_000016.8:g.4787988T>G NCBI36
NG_032174.1:g.9965A>C , LRG_455:g.9965A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000322048.12:c.647A>C MANE Select ENSP00000322832.6:p.Asn216Thr
ENST00000322048.11:c.647A>C ENSP00000322832.5:p.Asn216Thr
ENST00000586153.1:c.293A>C ENSP00000464699.1:p.Asn98Thr
ENST00000586336.5:n.746A>C
ENST00000586504.5:c.425+85A>C
ENST00000587377.5:c.660A>C ENSP00000468343.1:p.Glu220Asp
ENST00000587711.5:c.332A>C ENSP00000467459.1:p.Asn111Thr
ENST00000587843.5:c.*385A>C ENSP00000465970.1:n.*385A>C
ENST00000588201.5:c.*638A>C ENSP00000466529.1:n.*638A>C
ENST00000589543.5:n.604A>C
ENST00000591292.5:n.1976A>C
ENST00000591392.5:c.575A>C ENSP00000467509.1:p.Asn192Thr
ENST00000592019.1:c.77-171A>C
NM_024589.2:c.647A>C , LRG_455t1:c.647A>C NP_078865.1:p.Asn216Thr
NR_046480.1:n.971A>C
XM_006720947.2:c.647A>C XP_006721010.1:p.Asn216Thr
XM_006720948.2:c.377A>C XP_006721011.1:p.Asn126Thr
XM_006720947.4:c.647A>C XP_006721010.1:p.Asn216Thr
XM_006720948.4:c.377A>C XP_006721011.1:p.Asn126Thr
NM_024589.3:c.647A>C MANE Select NP_078865.1:p.Asn216Thr
NR_046480.2:n.654A>C