Canonical Allele Identifier: CA493404715

Gene: ROGDI

Linked Data

• MyVariant Identifiers: chr16:g.4847962C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4797961C>G , CM000678.2:g.4797961C>G	GRCh38
NC_000016.9:g.4847962C>G , CM000678.1:g.4847962C>G	GRCh37
NC_000016.8:g.4787963C>G	NCBI36
NG_032174.1:g.9990G>C , LRG_455:g.9990G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.672G>C MANE Select	ENSP00000322832.6:p.Val224=
ENST00000322048.11:c.672G>C	ENSP00000322832.5:p.Val224=
ENST00000586153.1:c.318G>C	ENSP00000464699.1:p.Val106=
ENST00000586336.5:n.771G>C
ENST00000586504.5:c.425+110G>C
ENST00000587377.5:c.685G>C	ENSP00000468343.1:p.Ala229Pro
ENST00000587711.5:c.357G>C	ENSP00000467459.1:p.Val119=
ENST00000587843.5:c.*410G>C	ENSP00000465970.1:n.*410G>C
ENST00000588201.5:c.*663G>C	ENSP00000466529.1:n.*663G>C
ENST00000589543.5:n.629G>C
ENST00000591292.5:n.2001G>C
ENST00000591392.5:c.600G>C	ENSP00000467509.1:p.Val200=
ENST00000592019.1:c.77-146G>C
NM_024589.2:c.672G>C , LRG_455t1:c.672G>C	NP_078865.1:p.Val224=
NR_046480.1:n.996G>C
XM_006720947.2:c.672G>C	XP_006721010.1:p.Val224=
XM_006720948.2:c.402G>C	XP_006721011.1:p.Val134=
XM_006720947.4:c.672G>C	XP_006721010.1:p.Val224=
XM_006720948.4:c.402G>C	XP_006721011.1:p.Val134=
NM_024589.3:c.672G>C MANE Select	NP_078865.1:p.Val224=
NR_046480.2:n.679G>C