Canonical Allele Identifier: CA394653146

Gene: ROGDI

Linked Data

• dbSNP Id: rs1202052854
• gnomAD v2: 16-4849689-T-C
• gnomAD v4: 16-4799688-T-C
• MyVariant Identifiers: chr16:g.4849689T>C (hg19) ; chr16:g.4799688T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4799688T>C , CM000678.2:g.4799688T>C	GRCh38
NC_000016.9:g.4849689T>C , CM000678.1:g.4849689T>C	GRCh37
NC_000016.8:g.4789690T>C	NCBI36
NG_032174.1:g.8263A>G , LRG_455:g.8263A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.430A>G MANE Select	ENSP00000322832.6:p.Lys144Glu
ENST00000322048.11:c.430A>G	ENSP00000322832.5:p.Lys144Glu
ENST00000585653.1:n.562A>G
ENST00000586153.1:c.175A>G	ENSP00000464699.1:p.Lys59Glu
ENST00000586336.5:n.529A>G
ENST00000586504.5:c.210A>G
ENST00000587377.5:c.423+7A>G	ENSP00000468343.1:n.423+7A>G
ENST00000587711.5:c.118-1021A>G	ENSP00000467459.1:n.118-1021A>G
ENST00000587843.5:c.*168A>G	ENSP00000465970.1:n.*168A>G
ENST00000588201.5:c.*287A>G	ENSP00000466529.1:n.*287A>G
ENST00000589543.5:n.387A>G
ENST00000591292.5:n.1759A>G
ENST00000591392.5:c.358A>G	ENSP00000467509.1:p.Lys120Glu
ENST00000592019.1:c.76+73A>G
NM_024589.2:c.430A>G , LRG_455t1:c.430A>G	NP_078865.1:p.Lys144Glu
NR_046480.1:n.754A>G
XM_006720947.2:c.430A>G	XP_006721010.1:p.Lys144Glu
XM_006720948.2:c.160A>G	XP_006721011.1:p.Lys54Glu
XM_006720947.4:c.430A>G	XP_006721010.1:p.Lys144Glu
XM_006720948.4:c.160A>G	XP_006721011.1:p.Lys54Glu
NM_024589.3:c.430A>G MANE Select	NP_078865.1:p.Lys144Glu
NR_046480.2:n.437A>G