Canonical Allele Identifier: CA394650868

Gene: ROGDI

Linked Data

• MyVariant Identifiers: chr16:g.4848181A>C (hg19) ; chr16:g.4798180A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4798180A>C , CM000678.2:g.4798180A>C	GRCh38
NC_000016.9:g.4848181A>C , CM000678.1:g.4848181A>C	GRCh37
NC_000016.8:g.4788182A>C	NCBI36
NG_032174.1:g.9771T>G , LRG_455:g.9771T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.536T>G MANE Select	ENSP00000322832.6:p.Met179Arg
ENST00000322048.11:c.536T>G	ENSP00000322832.5:p.Met179Arg
ENST00000586153.1:c.182T>G	ENSP00000464699.1:p.Met61Arg
ENST00000586336.5:n.635T>G
ENST00000586504.5:c.316T>G
ENST00000587377.5:c.549T>G	ENSP00000468343.1:p.Asp183Glu
ENST00000587711.5:c.221T>G	ENSP00000467459.1:p.Met74Arg
ENST00000587843.5:c.*274T>G	ENSP00000465970.1:n.*274T>G
ENST00000588201.5:c.*527T>G	ENSP00000466529.1:n.*527T>G
ENST00000589543.5:n.493T>G
ENST00000591292.5:n.1865T>G
ENST00000591392.5:c.464T>G	ENSP00000467509.1:p.Met155Arg
ENST00000592019.1:c.77-365T>G
NM_024589.2:c.536T>G , LRG_455t1:c.536T>G	NP_078865.1:p.Met179Arg
NR_046480.1:n.860T>G
XM_006720947.2:c.536T>G	XP_006721010.1:p.Met179Arg
XM_006720948.2:c.266T>G	XP_006721011.1:p.Met89Arg
XM_006720947.4:c.536T>G	XP_006721010.1:p.Met179Arg
XM_006720948.4:c.266T>G	XP_006721011.1:p.Met89Arg
NM_024589.3:c.536T>G MANE Select	NP_078865.1:p.Met179Arg
NR_046480.2:n.543T>G