Canonical Allele Identifier: CA394650757

Gene: ROGDI

Linked Data

• MyVariant Identifiers: chr16:g.4848173G>T (hg19) ; chr16:g.4798172G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4798172G>T , CM000678.2:g.4798172G>T	GRCh38
NC_000016.9:g.4848173G>T , CM000678.1:g.4848173G>T	GRCh37
NC_000016.8:g.4788174G>T	NCBI36
NG_032174.1:g.9779C>A , LRG_455:g.9779C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.544C>A MANE Select	ENSP00000322832.6:p.Pro182Thr
ENST00000322048.11:c.544C>A	ENSP00000322832.5:p.Pro182Thr
ENST00000586153.1:c.190C>A	ENSP00000464699.1:p.Pro64Thr
ENST00000586336.5:n.643C>A
ENST00000586504.5:c.324C>A
ENST00000587377.5:c.557C>A	ENSP00000468343.1:p.Pro186His
ENST00000587711.5:c.229C>A	ENSP00000467459.1:p.Pro77Thr
ENST00000587843.5:c.*282C>A	ENSP00000465970.1:n.*282C>A
ENST00000588201.5:c.*535C>A	ENSP00000466529.1:n.*535C>A
ENST00000589543.5:n.501C>A
ENST00000591292.5:n.1873C>A
ENST00000591392.5:c.472C>A	ENSP00000467509.1:p.Pro158Thr
ENST00000592019.1:c.77-357C>A
NM_024589.2:c.544C>A , LRG_455t1:c.544C>A	NP_078865.1:p.Pro182Thr
NR_046480.1:n.868C>A
XM_006720947.2:c.544C>A	XP_006721010.1:p.Pro182Thr
XM_006720948.2:c.274C>A	XP_006721011.1:p.Pro92Thr
XM_006720947.4:c.544C>A	XP_006721010.1:p.Pro182Thr
XM_006720948.4:c.274C>A	XP_006721011.1:p.Pro92Thr
NM_024589.3:c.544C>A MANE Select	NP_078865.1:p.Pro182Thr
NR_046480.2:n.551C>A