Canonical Allele Identifier: CA620513170

Gene: ROGDI

Linked Data

• dbSNP Id: rs1439291788
• gnomAD v2: 16-4848457-A-G
• gnomAD v3: 16-4798456-A-G
• gnomAD v4: 16-4798456-A-G
• MyVariant Identifiers: chr16:g.4848457A>G (hg19) ; chr16:g.4798456A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4798456A>G , CM000678.2:g.4798456A>G	GRCh38
NC_000016.9:g.4848457A>G , CM000678.1:g.4848457A>G	GRCh37
NC_000016.8:g.4788458A>G	NCBI36
NG_032174.1:g.9495T>C , LRG_455:g.9495T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.531+113T>C MANE Select	ENSP00000322832.6:n.531+113T>C
ENST00000322048.11:c.531+113T>C	ENSP00000322832.5:n.531+113T>C
ENST00000586153.1:c.178-272T>C	ENSP00000464699.1:n.178-272T>C
ENST00000586336.5:n.630+113T>C
ENST00000586504.5:c.311+113T>C
ENST00000587377.5:c.544+113T>C	ENSP00000468343.1:n.544+113T>C
ENST00000587711.5:c.216+113T>C	ENSP00000467459.1:n.216+113T>C
ENST00000587843.5:c.*269+113T>C	ENSP00000465970.1:n.*269+113T>C
ENST00000588201.5:c.*522+113T>C	ENSP00000466529.1:n.*522+113T>C
ENST00000589543.5:n.488+113T>C
ENST00000591292.5:n.1860+113T>C
ENST00000591392.5:c.459+113T>C	ENSP00000467509.1:n.459+113T>C
ENST00000592019.1:c.77-641T>C
NM_024589.2:c.531+113T>C , LRG_455t1:c.531+113T>C	NP_078865.1:n.531+113T>C
NR_046480.1:n.855+113T>C
XM_006720947.2:c.531+113T>C	XP_006721010.1:n.531+113T>C
XM_006720948.2:c.261+113T>C	XP_006721011.1:n.261+113T>C
XM_006720947.4:c.531+113T>C	XP_006721010.1:n.531+113T>C
XM_006720948.4:c.261+113T>C	XP_006721011.1:n.261+113T>C
NM_024589.3:c.531+113T>C MANE Select	NP_078865.1:n.531+113T>C
NR_046480.2:n.538+113T>C