Canonical Allele Identifier: CA620716805

Gene: ROGDI

Linked Data

• dbSNP Id: rs1206972679
• gnomAD v2: 16-4847859-G-A
• gnomAD v3: 16-4797858-G-A
• gnomAD v4: 16-4797858-G-A
• MyVariant Identifiers: chr16:g.4847859G>A (hg19) ; chr16:g.4797858G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4797858G>A , CM000678.2:g.4797858G>A	GRCh38
NC_000016.9:g.4847859G>A , CM000678.1:g.4847859G>A	GRCh37
NC_000016.8:g.4787860G>A	NCBI36
NG_032174.1:g.10093C>T , LRG_455:g.10093C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.696-18C>T MANE Select	ENSP00000322832.6:n.696-18C>T
ENST00000322048.11:c.696-18C>T	ENSP00000322832.5:n.696-18C>T
ENST00000586153.1:c.342-22C>T	ENSP00000464699.1:n.342-22C>T
ENST00000586336.5:n.795-18C>T
ENST00000586504.5:c.426-18C>T
ENST00000587377.5:c.*16-18C>T	ENSP00000468343.1:n.*16-18C>T
ENST00000587711.5:c.381-18C>T	ENSP00000467459.1:n.381-18C>T
ENST00000587843.5:c.*434-18C>T	ENSP00000465970.1:n.*434-18C>T
ENST00000588201.5:c.*687-18C>T	ENSP00000466529.1:n.*687-18C>T
ENST00000589543.5:n.653-18C>T
ENST00000591292.5:n.2025-18C>T
ENST00000591392.5:c.624-18C>T	ENSP00000467509.1:n.624-18C>T
ENST00000592019.1:c.77-43C>T
NM_024589.2:c.696-18C>T , LRG_455t1:c.696-18C>T	NP_078865.1:n.696-18C>T
NR_046480.1:n.1020-18C>T
XM_006720947.2:c.699C>T	XP_006721010.1:p.Asp233=
XM_006720948.2:c.429C>T	XP_006721011.1:p.Asp143=
XM_006720947.4:c.699C>T	XP_006721010.1:p.Asp233=
XM_006720948.4:c.429C>T	XP_006721011.1:p.Asp143=
NM_024589.3:c.696-18C>T MANE Select	NP_078865.1:n.696-18C>T
NR_046480.2:n.703-18C>T