Canonical Allele Identifier: CA721100496

Gene: ROGDI

Linked Data

• dbSNP Id: rs1435286973
• gnomAD v3: 16-4798445-C-G
• gnomAD v4: 16-4798445-C-G
• MyVariant Identifiers: chr16:g.4848446C>G (hg19) ; chr16:g.4798445C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4798445C>G , CM000678.2:g.4798445C>G	GRCh38
NC_000016.9:g.4848446C>G , CM000678.1:g.4848446C>G	GRCh37
NC_000016.8:g.4788447C>G	NCBI36
NG_032174.1:g.9506G>C , LRG_455:g.9506G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.531+124G>C MANE Select	ENSP00000322832.6:n.531+124G>C
ENST00000322048.11:c.531+124G>C	ENSP00000322832.5:n.531+124G>C
ENST00000586153.1:c.178-261G>C	ENSP00000464699.1:n.178-261G>C
ENST00000586336.5:n.630+124G>C
ENST00000586504.5:c.311+124G>C
ENST00000587377.5:c.544+124G>C	ENSP00000468343.1:n.544+124G>C
ENST00000587711.5:c.216+124G>C	ENSP00000467459.1:n.216+124G>C
ENST00000587843.5:c.*269+124G>C	ENSP00000465970.1:n.*269+124G>C
ENST00000588201.5:c.*522+124G>C	ENSP00000466529.1:n.*522+124G>C
ENST00000589543.5:n.488+124G>C
ENST00000591292.5:n.1860+124G>C
ENST00000591392.5:c.459+124G>C	ENSP00000467509.1:n.459+124G>C
ENST00000592019.1:c.77-630G>C
NM_024589.2:c.531+124G>C , LRG_455t1:c.531+124G>C	NP_078865.1:n.531+124G>C
NR_046480.1:n.855+124G>C
XM_006720947.2:c.531+124G>C	XP_006721010.1:n.531+124G>C
XM_006720948.2:c.261+124G>C	XP_006721011.1:n.261+124G>C
XM_006720947.4:c.531+124G>C	XP_006721010.1:n.531+124G>C
XM_006720948.4:c.261+124G>C	XP_006721011.1:n.261+124G>C
NM_024589.3:c.531+124G>C MANE Select	NP_078865.1:n.531+124G>C
NR_046480.2:n.538+124G>C