Canonical Allele Identifier: CA394653215

Gene: ROGDI

Linked Data

• gnomAD v4: 16-4799702-C-A
• MyVariant Identifiers: chr16:g.4849703C>A (hg19) ; chr16:g.4799702C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4799702C>A , CM000678.2:g.4799702C>A	GRCh38
NC_000016.9:g.4849703C>A , CM000678.1:g.4849703C>A	GRCh37
NC_000016.8:g.4789704C>A	NCBI36
NG_032174.1:g.8249G>T , LRG_455:g.8249G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.416G>T MANE Select	ENSP00000322832.6:p.Gly139Val
ENST00000322048.11:c.416G>T	ENSP00000322832.5:p.Gly139Val
ENST00000585653.1:n.548G>T
ENST00000586153.1:c.161G>T	ENSP00000464699.1:p.Gly54Val
ENST00000586336.5:n.515G>T
ENST00000586504.5:c.196G>T
ENST00000587377.5:c.416G>T	ENSP00000468343.1:p.Gly139Val
ENST00000587711.5:c.118-1035G>T	ENSP00000467459.1:n.118-1035G>T
ENST00000587843.5:c.*154G>T	ENSP00000465970.1:n.*154G>T
ENST00000588201.5:c.*273G>T	ENSP00000466529.1:n.*273G>T
ENST00000589543.5:n.373G>T
ENST00000591292.5:n.1745G>T
ENST00000591392.5:c.344G>T	ENSP00000467509.1:p.Gly115Val
ENST00000592019.1:c.76+59G>T
NM_024589.2:c.416G>T , LRG_455t1:c.416G>T	NP_078865.1:p.Gly139Val
NR_046480.1:n.740G>T
XM_006720947.2:c.416G>T	XP_006721010.1:p.Gly139Val
XM_006720948.2:c.146G>T	XP_006721011.1:p.Gly49Val
XM_006720947.4:c.416G>T	XP_006721010.1:p.Gly139Val
XM_006720948.4:c.146G>T	XP_006721011.1:p.Gly49Val
NM_024589.3:c.416G>T MANE Select	NP_078865.1:p.Gly139Val
NR_046480.2:n.423G>T