Canonical Allele Identifier: CA394653250

Gene: ROGDI

Linked Data

• dbSNP Id: rs1261926326
• gnomAD v3: 16-4799709-T-C
• gnomAD v4: 16-4799709-T-C
• MyVariant Identifiers: chr16:g.4849710T>C (hg19) ; chr16:g.4799709T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4799709T>C , CM000678.2:g.4799709T>C	GRCh38
NC_000016.9:g.4849710T>C , CM000678.1:g.4849710T>C	GRCh37
NC_000016.8:g.4789711T>C	NCBI36
NG_032174.1:g.8242A>G , LRG_455:g.8242A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.409A>G MANE Select	ENSP00000322832.6:p.Lys137Glu
ENST00000322048.11:c.409A>G	ENSP00000322832.5:p.Lys137Glu
ENST00000585653.1:n.541A>G
ENST00000586153.1:c.154A>G	ENSP00000464699.1:p.Lys52Glu
ENST00000586336.5:n.508A>G
ENST00000586504.5:c.189A>G
ENST00000587377.5:c.409A>G	ENSP00000468343.1:p.Lys137Glu
ENST00000587711.5:c.118-1042A>G	ENSP00000467459.1:n.118-1042A>G
ENST00000587843.5:c.*147A>G	ENSP00000465970.1:n.*147A>G
ENST00000588201.5:c.*266A>G	ENSP00000466529.1:n.*266A>G
ENST00000589543.5:n.366A>G
ENST00000591292.5:n.1738A>G
ENST00000591392.5:c.337A>G	ENSP00000467509.1:p.Lys113Glu
ENST00000592019.1:c.76+52A>G
NM_024589.2:c.409A>G , LRG_455t1:c.409A>G	NP_078865.1:p.Lys137Glu
NR_046480.1:n.733A>G
XM_006720947.2:c.409A>G	XP_006721010.1:p.Lys137Glu
XM_006720948.2:c.139A>G	XP_006721011.1:p.Lys47Glu
XM_006720947.4:c.409A>G	XP_006721010.1:p.Lys137Glu
XM_006720948.4:c.139A>G	XP_006721011.1:p.Lys47Glu
NM_024589.3:c.409A>G MANE Select	NP_078865.1:p.Lys137Glu
NR_046480.2:n.416A>G