Canonical Allele Identifier: CA394650064

Gene: ROGDI

Linked Data

• MyVariant Identifiers: chr16:g.4848097T>G (hg19) ; chr16:g.4798096T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4798096T>G , CM000678.2:g.4798096T>G	GRCh38
NC_000016.9:g.4848097T>G , CM000678.1:g.4848097T>G	GRCh37
NC_000016.8:g.4788098T>G	NCBI36
NG_032174.1:g.9855A>C , LRG_455:g.9855A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.620A>C MANE Select	ENSP00000322832.6:p.His207Pro
ENST00000322048.11:c.620A>C	ENSP00000322832.5:p.His207Pro
ENST00000586153.1:c.266A>C	ENSP00000464699.1:p.His89Pro
ENST00000586336.5:n.719A>C
ENST00000586504.5:c.400A>C
ENST00000587377.5:c.633A>C	ENSP00000468343.1:p.Ala211=
ENST00000587711.5:c.305A>C	ENSP00000467459.1:p.His102Pro
ENST00000587843.5:c.*358A>C	ENSP00000465970.1:n.*358A>C
ENST00000588201.5:c.*611A>C	ENSP00000466529.1:n.*611A>C
ENST00000589543.5:n.577A>C
ENST00000591292.5:n.1949A>C
ENST00000591392.5:c.548A>C	ENSP00000467509.1:p.His183Pro
ENST00000592019.1:c.77-281A>C
NM_024589.2:c.620A>C , LRG_455t1:c.620A>C	NP_078865.1:p.His207Pro
NR_046480.1:n.944A>C
XM_006720947.2:c.620A>C	XP_006721010.1:p.His207Pro
XM_006720948.2:c.350A>C	XP_006721011.1:p.His117Pro
XM_006720947.4:c.620A>C	XP_006721010.1:p.His207Pro
XM_006720948.4:c.350A>C	XP_006721011.1:p.His117Pro
NM_024589.3:c.620A>C MANE Select	NP_078865.1:p.His207Pro
NR_046480.2:n.627A>C