Canonical Allele Identifier: CA394649378

Gene: ROGDI

Linked Data

• MyVariant Identifiers: chr16:g.4847945G>T (hg19) ; chr16:g.4797944G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4797944G>T , CM000678.2:g.4797944G>T	GRCh38
NC_000016.9:g.4847945G>T , CM000678.1:g.4847945G>T	GRCh37
NC_000016.8:g.4787946G>T	NCBI36
NG_032174.1:g.10007C>A , LRG_455:g.10007C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.689C>A MANE Select	ENSP00000322832.6:p.Ala230Asp
ENST00000322048.11:c.689C>A	ENSP00000322832.5:p.Ala230Asp
ENST00000586153.1:c.335C>A	ENSP00000464699.1:p.Ala112Asp
ENST00000586336.5:n.788C>A
ENST00000586504.5:c.426-104C>A
ENST00000587377.5:c.*9C>A	ENSP00000468343.1:n.*9C>A
ENST00000587711.5:c.374C>A	ENSP00000467459.1:p.Ala125Asp
ENST00000587843.5:c.*427C>A	ENSP00000465970.1:n.*427C>A
ENST00000588201.5:c.*680C>A	ENSP00000466529.1:n.*680C>A
ENST00000589543.5:n.646C>A
ENST00000591292.5:n.2018C>A
ENST00000591392.5:c.617C>A	ENSP00000467509.1:p.Ala206Asp
ENST00000592019.1:c.77-129C>A
NM_024589.2:c.689C>A , LRG_455t1:c.689C>A	NP_078865.1:p.Ala230Asp
NR_046480.1:n.1013C>A
XM_006720947.2:c.689C>A	XP_006721010.1:p.Ala230Asp
XM_006720948.2:c.419C>A	XP_006721011.1:p.Ala140Asp
XM_006720947.4:c.689C>A	XP_006721010.1:p.Ala230Asp
XM_006720948.4:c.419C>A	XP_006721011.1:p.Ala140Asp
NM_024589.3:c.689C>A MANE Select	NP_078865.1:p.Ala230Asp
NR_046480.2:n.696C>A