Canonical Allele Identifier: CA394649350

Gene: ROGDI

Linked Data

• ClinVar Variation Id: 1043208
• ClinVar RCV Id: RCV001347281
• dbSNP Id: rs1437175362
• gnomAD v4: 16-4797941-A-G
• MyVariant Identifiers: chr16:g.4847942A>G (hg19) ; chr16:g.4797941A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4797941A>G , CM000678.2:g.4797941A>G	GRCh38
NC_000016.9:g.4847942A>G , CM000678.1:g.4847942A>G	GRCh37
NC_000016.8:g.4787943A>G	NCBI36
NG_032174.1:g.10010T>C , LRG_455:g.10010T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.692T>C MANE Select	ENSP00000322832.6:p.Met231Thr
ENST00000322048.11:c.692T>C	ENSP00000322832.5:p.Met231Thr
ENST00000586153.1:c.338T>C	ENSP00000464699.1:p.Met113Thr
ENST00000586336.5:n.791T>C
ENST00000586504.5:c.426-101T>C
ENST00000587377.5:c.*12T>C	ENSP00000468343.1:n.*12T>C
ENST00000587711.5:c.377T>C	ENSP00000467459.1:p.Met126Thr
ENST00000587843.5:c.*430T>C	ENSP00000465970.1:n.*430T>C
ENST00000588201.5:c.*683T>C	ENSP00000466529.1:n.*683T>C
ENST00000589543.5:n.649T>C
ENST00000591292.5:n.2021T>C
ENST00000591392.5:c.620T>C	ENSP00000467509.1:p.Met207Thr
ENST00000592019.1:c.77-126T>C
NM_024589.2:c.692T>C , LRG_455t1:c.692T>C	NP_078865.1:p.Met231Thr
NR_046480.1:n.1016T>C
XM_006720947.2:c.692T>C	XP_006721010.1:p.Met231Thr
XM_006720948.2:c.422T>C	XP_006721011.1:p.Met141Thr
XM_006720947.4:c.692T>C	XP_006721010.1:p.Met231Thr
XM_006720948.4:c.422T>C	XP_006721011.1:p.Met141Thr
NM_024589.3:c.692T>C MANE Select	NP_078865.1:p.Met231Thr
NR_046480.2:n.699T>C