Canonical Allele Identifier: CA394649368

Gene: ROGDI

Linked Data

• gnomAD v4: 16-4797942-T-G
• MyVariant Identifiers: chr16:g.4847943T>G (hg19) ; chr16:g.4797942T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4797942T>G , CM000678.2:g.4797942T>G	GRCh38
NC_000016.9:g.4847943T>G , CM000678.1:g.4847943T>G	GRCh37
NC_000016.8:g.4787944T>G	NCBI36
NG_032174.1:g.10009A>C , LRG_455:g.10009A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.691A>C MANE Select	ENSP00000322832.6:p.Met231Leu
ENST00000322048.11:c.691A>C	ENSP00000322832.5:p.Met231Leu
ENST00000586153.1:c.337A>C	ENSP00000464699.1:p.Met113Leu
ENST00000586336.5:n.790A>C
ENST00000586504.5:c.426-102A>C
ENST00000587377.5:c.*11A>C	ENSP00000468343.1:n.*11A>C
ENST00000587711.5:c.376A>C	ENSP00000467459.1:p.Met126Leu
ENST00000587843.5:c.*429A>C	ENSP00000465970.1:n.*429A>C
ENST00000588201.5:c.*682A>C	ENSP00000466529.1:n.*682A>C
ENST00000589543.5:n.648A>C
ENST00000591292.5:n.2020A>C
ENST00000591392.5:c.619A>C	ENSP00000467509.1:p.Met207Leu
ENST00000592019.1:c.77-127A>C
NM_024589.2:c.691A>C , LRG_455t1:c.691A>C	NP_078865.1:p.Met231Leu
NR_046480.1:n.1015A>C
XM_006720947.2:c.691A>C	XP_006721010.1:p.Met231Leu
XM_006720948.2:c.421A>C	XP_006721011.1:p.Met141Leu
XM_006720947.4:c.691A>C	XP_006721010.1:p.Met231Leu
XM_006720948.4:c.421A>C	XP_006721011.1:p.Met141Leu
NM_024589.3:c.691A>C MANE Select	NP_078865.1:p.Met231Leu
NR_046480.2:n.698A>C