Canonical Allele Identifier: CA7882526

Gene: ROGDI

Linked Data

• dbSNP Id: rs117318039
• ExAC: 16:4847875 C / T
• gnomAD v2: 16-4847875-C-T
• gnomAD v3: 16-4797874-C-T
• gnomAD v4: 16-4797874-C-T
• MyVariant Identifiers: chr16:g.4847875C>T (hg19) ; chr16:g.4797874C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4797874C>T , CM000678.2:g.4797874C>T	GRCh38
NC_000016.9:g.4847875C>T , CM000678.1:g.4847875C>T	GRCh37
NC_000016.8:g.4787876C>T	NCBI36
NG_032174.1:g.10077G>A , LRG_455:g.10077G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.696-34G>A MANE Select	ENSP00000322832.6:n.696-34G>A
ENST00000322048.11:c.696-34G>A	ENSP00000322832.5:n.696-34G>A
ENST00000586153.1:c.342-38G>A	ENSP00000464699.1:n.342-38G>A
ENST00000586336.5:n.795-34G>A
ENST00000586504.5:c.426-34G>A
ENST00000587377.5:c.*16-34G>A	ENSP00000468343.1:n.*16-34G>A
ENST00000587711.5:c.381-34G>A	ENSP00000467459.1:n.381-34G>A
ENST00000587843.5:c.*434-34G>A	ENSP00000465970.1:n.*434-34G>A
ENST00000588201.5:c.*687-34G>A	ENSP00000466529.1:n.*687-34G>A
ENST00000589543.5:n.653-34G>A
ENST00000591292.5:n.2025-34G>A
ENST00000591392.5:c.624-34G>A	ENSP00000467509.1:n.624-34G>A
ENST00000592019.1:c.77-59G>A
NM_024589.2:c.696-34G>A , LRG_455t1:c.696-34G>A	NP_078865.1:n.696-34G>A
NR_046480.1:n.1020-34G>A
XM_006720947.2:c.696-13G>A	XP_006721010.1:n.696-13G>A
XM_006720948.2:c.426-13G>A	XP_006721011.1:n.426-13G>A
XM_006720947.4:c.696-13G>A	XP_006721010.1:n.696-13G>A
XM_006720948.4:c.426-13G>A	XP_006721011.1:n.426-13G>A
NM_024589.3:c.696-34G>A MANE Select	NP_078865.1:n.696-34G>A
NR_046480.2:n.703-34G>A