Canonical Allele Identifier: CA394650257

Gene: ROGDI

Linked Data

• MyVariant Identifiers: chr16:g.4848122G>T (hg19) ; chr16:g.4798121G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4798121G>T , CM000678.2:g.4798121G>T	GRCh38
NC_000016.9:g.4848122G>T , CM000678.1:g.4848122G>T	GRCh37
NC_000016.8:g.4788123G>T	NCBI36
NG_032174.1:g.9830C>A , LRG_455:g.9830C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.595C>A MANE Select	ENSP00000322832.6:p.Leu199Ile
ENST00000322048.11:c.595C>A	ENSP00000322832.5:p.Leu199Ile
ENST00000586153.1:c.241C>A	ENSP00000464699.1:p.Leu81Ile
ENST00000586336.5:n.694C>A
ENST00000586504.5:c.375C>A
ENST00000587377.5:c.608C>A	ENSP00000468343.1:p.Ala203Asp
ENST00000587711.5:c.280C>A	ENSP00000467459.1:p.Leu94Ile
ENST00000587843.5:c.*333C>A	ENSP00000465970.1:n.*333C>A
ENST00000588201.5:c.*586C>A	ENSP00000466529.1:n.*586C>A
ENST00000589543.5:n.552C>A
ENST00000591292.5:n.1924C>A
ENST00000591392.5:c.523C>A	ENSP00000467509.1:p.Leu175Ile
ENST00000592019.1:c.77-306C>A
NM_024589.2:c.595C>A , LRG_455t1:c.595C>A	NP_078865.1:p.Leu199Ile
NR_046480.1:n.919C>A
XM_006720947.2:c.595C>A	XP_006721010.1:p.Leu199Ile
XM_006720948.2:c.325C>A	XP_006721011.1:p.Leu109Ile
XM_006720947.4:c.595C>A	XP_006721010.1:p.Leu199Ile
XM_006720948.4:c.325C>A	XP_006721011.1:p.Leu109Ile
NM_024589.3:c.595C>A MANE Select	NP_078865.1:p.Leu199Ile
NR_046480.2:n.602C>A