Canonical Allele Identifier: CA394650135

Gene: ROGDI

Linked Data

• MyVariant Identifiers: chr16:g.4848104G>T (hg19) ; chr16:g.4798103G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4798103G>T , CM000678.2:g.4798103G>T	GRCh38
NC_000016.9:g.4848104G>T , CM000678.1:g.4848104G>T	GRCh37
NC_000016.8:g.4788105G>T	NCBI36
NG_032174.1:g.9848C>A , LRG_455:g.9848C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.613C>A MANE Select	ENSP00000322832.6:p.Gln205Lys
ENST00000322048.11:c.613C>A	ENSP00000322832.5:p.Gln205Lys
ENST00000586153.1:c.259C>A	ENSP00000464699.1:p.Gln87Lys
ENST00000586336.5:n.712C>A
ENST00000586504.5:c.393C>A
ENST00000587377.5:c.626C>A	ENSP00000468343.1:p.Pro209Gln
ENST00000587711.5:c.298C>A	ENSP00000467459.1:p.Gln100Lys
ENST00000587843.5:c.*351C>A	ENSP00000465970.1:n.*351C>A
ENST00000588201.5:c.*604C>A	ENSP00000466529.1:n.*604C>A
ENST00000589543.5:n.570C>A
ENST00000591292.5:n.1942C>A
ENST00000591392.5:c.541C>A	ENSP00000467509.1:p.Gln181Lys
ENST00000592019.1:c.77-288C>A
NM_024589.2:c.613C>A , LRG_455t1:c.613C>A	NP_078865.1:p.Gln205Lys
NR_046480.1:n.937C>A
XM_006720947.2:c.613C>A	XP_006721010.1:p.Gln205Lys
XM_006720948.2:c.343C>A	XP_006721011.1:p.Gln115Lys
XM_006720947.4:c.613C>A	XP_006721010.1:p.Gln205Lys
XM_006720948.4:c.343C>A	XP_006721011.1:p.Gln115Lys
NM_024589.3:c.613C>A MANE Select	NP_078865.1:p.Gln205Lys
NR_046480.2:n.620C>A