Canonical Allele Identifier: CA394649206

Gene: ROGDI

Linked Data

• dbSNP Id: rs75818610
• gnomAD v2: 16-4847841-G-C
• MyVariant Identifiers: chr16:g.4847841G>C (hg19) ; chr16:g.4797840G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4797840G>C , CM000678.2:g.4797840G>C	GRCh38
NC_000016.9:g.4847841G>C , CM000678.1:g.4847841G>C	GRCh37
NC_000016.8:g.4787842G>C	NCBI36
NG_032174.1:g.10111C>G , LRG_455:g.10111C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.696C>G MANE Select	ENSP00000322832.6:p.Phe232Leu
ENST00000322048.11:c.696C>G	ENSP00000322832.5:p.Phe232Leu
ENST00000586153.1:c.342-4C>G	ENSP00000464699.1:n.342-4C>G
ENST00000586336.5:n.795C>G
ENST00000586504.5:c.426C>G
ENST00000587377.5:c.*16C>G	ENSP00000468343.1:n.*16C>G
ENST00000587711.5:c.381C>G	ENSP00000467459.1:p.Phe127Leu
ENST00000587843.5:c.*434C>G	ENSP00000465970.1:n.*434C>G
ENST00000588201.5:c.*687C>G	ENSP00000466529.1:n.*687C>G
ENST00000589543.5:n.653C>G
ENST00000591292.5:n.2025C>G
ENST00000591392.5:c.624C>G	ENSP00000467509.1:p.Phe208Leu
ENST00000592019.1:c.77-25C>G
NM_024589.2:c.696C>G , LRG_455t1:c.696C>G	NP_078865.1:p.Phe232Leu
NR_046480.1:n.1020C>G
XM_006720947.2:c.717C>G	XP_006721010.1:p.Ser239Arg
XM_006720948.2:c.447C>G	XP_006721011.1:p.Ser149Arg
XM_006720947.4:c.717C>G	XP_006721010.1:p.Ser239Arg
XM_006720948.4:c.447C>G	XP_006721011.1:p.Ser149Arg
NM_024589.3:c.696C>G MANE Select	NP_078865.1:p.Phe232Leu
NR_046480.2:n.703C>G