Canonical Allele Identifier: CA394649372

Gene: ROGDI

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.689C>T MANE Select	ENSP00000322832.6:p.Ala230Val
ENST00000322048.11:c.689C>T	ENSP00000322832.5:p.Ala230Val
ENST00000586153.1:c.335C>T	ENSP00000464699.1:p.Ala112Val
ENST00000586336.5:n.788C>T
ENST00000586504.5:c.426-104C>T
ENST00000587377.5:c.*9C>T	ENSP00000468343.1:n.*9C>T
ENST00000587711.5:c.374C>T	ENSP00000467459.1:p.Ala125Val
ENST00000587843.5:c.*427C>T	ENSP00000465970.1:n.*427C>T
ENST00000588201.5:c.*680C>T	ENSP00000466529.1:n.*680C>T
ENST00000589543.5:n.646C>T
ENST00000591292.5:n.2018C>T
ENST00000591392.5:c.617C>T	ENSP00000467509.1:p.Ala206Val
ENST00000592019.1:c.77-129C>T
NM_024589.2:c.689C>T , LRG_455t1:c.689C>T	NP_078865.1:p.Ala230Val
NR_046480.1:n.1013C>T
XM_006720947.2:c.689C>T	XP_006721010.1:p.Ala230Val
XM_006720948.2:c.419C>T	XP_006721011.1:p.Ala140Val
XM_006720947.4:c.689C>T	XP_006721010.1:p.Ala230Val
XM_006720948.4:c.419C>T	XP_006721011.1:p.Ala140Val
NM_024589.3:c.689C>T MANE Select	NP_078865.1:p.Ala230Val
NR_046480.2:n.696C>T