Canonical Allele Identifier: CA394649852

Gene: ROGDI

Linked Data

• dbSNP Id: rs1208197801
• gnomAD v2: 16-4848073-T-C
• gnomAD v4: 16-4798072-T-C
• MyVariant Identifiers: chr16:g.4848073T>C (hg19) ; chr16:g.4798072T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4798072T>C , CM000678.2:g.4798072T>C	GRCh38
NC_000016.9:g.4848073T>C , CM000678.1:g.4848073T>C	GRCh37
NC_000016.8:g.4788074T>C	NCBI36
NG_032174.1:g.9879A>G , LRG_455:g.9879A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.644A>G MANE Select	ENSP00000322832.6:p.Lys215Arg
ENST00000322048.11:c.644A>G	ENSP00000322832.5:p.Lys215Arg
ENST00000586153.1:c.290A>G	ENSP00000464699.1:p.Lys97Arg
ENST00000586336.5:n.743A>G
ENST00000586504.5:c.424A>G
ENST00000587377.5:c.657A>G	ENSP00000468343.1:p.Gln219=
ENST00000587711.5:c.329A>G	ENSP00000467459.1:p.Lys110Arg
ENST00000587843.5:c.*382A>G	ENSP00000465970.1:n.*382A>G
ENST00000588201.5:c.*635A>G	ENSP00000466529.1:n.*635A>G
ENST00000589543.5:n.601A>G
ENST00000591292.5:n.1973A>G
ENST00000591392.5:c.572A>G	ENSP00000467509.1:p.Lys191Arg
ENST00000592019.1:c.77-257A>G
NM_024589.2:c.644A>G , LRG_455t1:c.644A>G	NP_078865.1:p.Lys215Arg
NR_046480.1:n.968A>G
XM_006720947.2:c.644A>G	XP_006721010.1:p.Lys215Arg
XM_006720948.2:c.374A>G	XP_006721011.1:p.Lys125Arg
XM_006720947.4:c.644A>G	XP_006721010.1:p.Lys215Arg
XM_006720948.4:c.374A>G	XP_006721011.1:p.Lys125Arg
NM_024589.3:c.644A>G MANE Select	NP_078865.1:p.Lys215Arg
NR_046480.2:n.651A>G