Canonical Allele Identifier: CA394653211

Gene: ROGDI

Linked Data

• gnomAD v4: 16-4799700-C-G
• MyVariant Identifiers: chr16:g.4849701C>G (hg19) ; chr16:g.4799700C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4799700C>G , CM000678.2:g.4799700C>G	GRCh38
NC_000016.9:g.4849701C>G , CM000678.1:g.4849701C>G	GRCh37
NC_000016.8:g.4789702C>G	NCBI36
NG_032174.1:g.8251G>C , LRG_455:g.8251G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.418G>C MANE Select	ENSP00000322832.6:p.Ala140Pro
ENST00000322048.11:c.418G>C	ENSP00000322832.5:p.Ala140Pro
ENST00000585653.1:n.550G>C
ENST00000586153.1:c.163G>C	ENSP00000464699.1:p.Ala55Pro
ENST00000586336.5:n.517G>C
ENST00000586504.5:c.198G>C
ENST00000587377.5:c.418G>C	ENSP00000468343.1:p.Ala140Pro
ENST00000587711.5:c.118-1033G>C	ENSP00000467459.1:n.118-1033G>C
ENST00000587843.5:c.*156G>C	ENSP00000465970.1:n.*156G>C
ENST00000588201.5:c.*275G>C	ENSP00000466529.1:n.*275G>C
ENST00000589543.5:n.375G>C
ENST00000591292.5:n.1747G>C
ENST00000591392.5:c.346G>C	ENSP00000467509.1:p.Ala116Pro
ENST00000592019.1:c.76+61G>C
NM_024589.2:c.418G>C , LRG_455t1:c.418G>C	NP_078865.1:p.Ala140Pro
NR_046480.1:n.742G>C
XM_006720947.2:c.418G>C	XP_006721010.1:p.Ala140Pro
XM_006720948.2:c.148G>C	XP_006721011.1:p.Ala50Pro
XM_006720947.4:c.418G>C	XP_006721010.1:p.Ala140Pro
XM_006720948.4:c.148G>C	XP_006721011.1:p.Ala50Pro
NM_024589.3:c.418G>C MANE Select	NP_078865.1:p.Ala140Pro
NR_046480.2:n.425G>C