Canonical Allele Identifier: CA620716827

Gene: ROGDI

Linked Data

• dbSNP Id: rs1356739591
• gnomAD v2: 16-4847881-C-T
• gnomAD v4: 16-4797880-C-T
• MyVariant Identifiers: chr16:g.4847881C>T (hg19) ; chr16:g.4797880C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4797880C>T , CM000678.2:g.4797880C>T	GRCh38
NC_000016.9:g.4847881C>T , CM000678.1:g.4847881C>T	GRCh37
NC_000016.8:g.4787882C>T	NCBI36
NG_032174.1:g.10071G>A , LRG_455:g.10071G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.696-40G>A MANE Select	ENSP00000322832.6:n.696-40G>A
ENST00000322048.11:c.696-40G>A	ENSP00000322832.5:n.696-40G>A
ENST00000586153.1:c.342-44G>A	ENSP00000464699.1:n.342-44G>A
ENST00000586336.5:n.795-40G>A
ENST00000586504.5:c.426-40G>A
ENST00000587377.5:c.*16-40G>A	ENSP00000468343.1:n.*16-40G>A
ENST00000587711.5:c.381-40G>A	ENSP00000467459.1:n.381-40G>A
ENST00000587843.5:c.*434-40G>A	ENSP00000465970.1:n.*434-40G>A
ENST00000588201.5:c.*687-40G>A	ENSP00000466529.1:n.*687-40G>A
ENST00000589543.5:n.653-40G>A
ENST00000591292.5:n.2025-40G>A
ENST00000591392.5:c.624-40G>A	ENSP00000467509.1:n.624-40G>A
ENST00000592019.1:c.77-65G>A
NM_024589.2:c.696-40G>A , LRG_455t1:c.696-40G>A	NP_078865.1:n.696-40G>A
NR_046480.1:n.1020-40G>A
XM_006720947.2:c.696-19G>A	XP_006721010.1:n.696-19G>A
XM_006720948.2:c.426-19G>A	XP_006721011.1:n.426-19G>A
XM_006720947.4:c.696-19G>A	XP_006721010.1:n.696-19G>A
XM_006720948.4:c.426-19G>A	XP_006721011.1:n.426-19G>A
NM_024589.3:c.696-40G>A MANE Select	NP_078865.1:n.696-40G>A
NR_046480.2:n.703-40G>A