Canonical Allele Identifier: CA7882520

Gene: ROGDI

Linked Data

• dbSNP Id: rs373940267
• ExAC: 16:4847857 G / C
• gnomAD v2: 16-4847857-G-C
• gnomAD v4: 16-4797856-G-C
• MyVariant Identifiers: chr16:g.4847857G>C (hg19) ; chr16:g.4797856G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4797856G>C , CM000678.2:g.4797856G>C	GRCh38
NC_000016.9:g.4847857G>C , CM000678.1:g.4847857G>C	GRCh37
NC_000016.8:g.4787858G>C	NCBI36
NG_032174.1:g.10095C>G , LRG_455:g.10095C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.696-16C>G MANE Select	ENSP00000322832.6:n.696-16C>G
ENST00000322048.11:c.696-16C>G	ENSP00000322832.5:n.696-16C>G
ENST00000586153.1:c.342-20C>G	ENSP00000464699.1:n.342-20C>G
ENST00000586336.5:n.795-16C>G
ENST00000586504.5:c.426-16C>G
ENST00000587377.5:c.*16-16C>G	ENSP00000468343.1:n.*16-16C>G
ENST00000587711.5:c.381-16C>G	ENSP00000467459.1:n.381-16C>G
ENST00000587843.5:c.*434-16C>G	ENSP00000465970.1:n.*434-16C>G
ENST00000588201.5:c.*687-16C>G	ENSP00000466529.1:n.*687-16C>G
ENST00000589543.5:n.653-16C>G
ENST00000591292.5:n.2025-16C>G
ENST00000591392.5:c.624-16C>G	ENSP00000467509.1:n.624-16C>G
ENST00000592019.1:c.77-41C>G
NM_024589.2:c.696-16C>G , LRG_455t1:c.696-16C>G	NP_078865.1:n.696-16C>G
NR_046480.1:n.1020-16C>G
XM_006720947.2:c.701C>G	XP_006721010.1:p.Pro234Arg
XM_006720948.2:c.431C>G	XP_006721011.1:p.Pro144Arg
XM_006720947.4:c.701C>G	XP_006721010.1:p.Pro234Arg
XM_006720948.4:c.431C>G	XP_006721011.1:p.Pro144Arg
NM_024589.3:c.696-16C>G MANE Select	NP_078865.1:n.696-16C>G
NR_046480.2:n.703-16C>G