Canonical Allele Identifier: CA394650569

Gene: ROGDI

Linked Data

• ClinVar Variation Id: 1367184
• ClinVar RCV Id: RCV001947162
• dbSNP Id: rs773589345
• gnomAD v4: 16-4798157-C-G
• MyVariant Identifiers: chr16:g.4848158C>G (hg19) ; chr16:g.4798157C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4798157C>G , CM000678.2:g.4798157C>G	GRCh38
NC_000016.9:g.4848158C>G , CM000678.1:g.4848158C>G	GRCh37
NC_000016.8:g.4788159C>G	NCBI36
NG_032174.1:g.9794G>C , LRG_455:g.9794G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.559G>C MANE Select	ENSP00000322832.6:p.Asp187His
ENST00000322048.11:c.559G>C	ENSP00000322832.5:p.Asp187His
ENST00000586153.1:c.205G>C	ENSP00000464699.1:p.Asp69His
ENST00000586336.5:n.658G>C
ENST00000586504.5:c.339G>C
ENST00000587377.5:c.572G>C	ENSP00000468343.1:p.Arg191Pro
ENST00000587711.5:c.244G>C	ENSP00000467459.1:p.Asp82His
ENST00000587843.5:c.*297G>C	ENSP00000465970.1:n.*297G>C
ENST00000588201.5:c.*550G>C	ENSP00000466529.1:n.*550G>C
ENST00000589543.5:n.516G>C
ENST00000591292.5:n.1888G>C
ENST00000591392.5:c.487G>C	ENSP00000467509.1:p.Asp163His
ENST00000592019.1:c.77-342G>C
NM_024589.2:c.559G>C , LRG_455t1:c.559G>C	NP_078865.1:p.Asp187His
NR_046480.1:n.883G>C
XM_006720947.2:c.559G>C	XP_006721010.1:p.Asp187His
XM_006720948.2:c.289G>C	XP_006721011.1:p.Asp97His
XM_006720947.4:c.559G>C	XP_006721010.1:p.Asp187His
XM_006720948.4:c.289G>C	XP_006721011.1:p.Asp97His
NM_024589.3:c.559G>C MANE Select	NP_078865.1:p.Asp187His
NR_046480.2:n.566G>C