Canonical Allele Identifier: CA394649340

Gene: ROGDI

Linked Data

• gnomAD v4: 16-4797940-C-A
• MyVariant Identifiers: chr16:g.4847941C>A (hg19) ; chr16:g.4797940C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4797940C>A , CM000678.2:g.4797940C>A	GRCh38
NC_000016.9:g.4847941C>A , CM000678.1:g.4847941C>A	GRCh37
NC_000016.8:g.4787942C>A	NCBI36
NG_032174.1:g.10011G>T , LRG_455:g.10011G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.693G>T MANE Select	ENSP00000322832.6:p.Met231Ile
ENST00000322048.11:c.693G>T	ENSP00000322832.5:p.Met231Ile
ENST00000586153.1:c.339G>T	ENSP00000464699.1:p.Met113Ile
ENST00000586336.5:n.792G>T
ENST00000586504.5:c.426-100G>T
ENST00000587377.5:c.*13G>T	ENSP00000468343.1:n.*13G>T
ENST00000587711.5:c.378G>T	ENSP00000467459.1:p.Met126Ile
ENST00000587843.5:c.*431G>T	ENSP00000465970.1:n.*431G>T
ENST00000588201.5:c.*684G>T	ENSP00000466529.1:n.*684G>T
ENST00000589543.5:n.650G>T
ENST00000591292.5:n.2022G>T
ENST00000591392.5:c.621G>T	ENSP00000467509.1:p.Met207Ile
ENST00000592019.1:c.77-125G>T
NM_024589.2:c.693G>T , LRG_455t1:c.693G>T	NP_078865.1:p.Met231Ile
NR_046480.1:n.1017G>T
XM_006720947.2:c.693G>T	XP_006721010.1:p.Met231Ile
XM_006720948.2:c.423G>T	XP_006721011.1:p.Met141Ile
XM_006720947.4:c.693G>T	XP_006721010.1:p.Met231Ile
XM_006720948.4:c.423G>T	XP_006721011.1:p.Met141Ile
NM_024589.3:c.693G>T MANE Select	NP_078865.1:p.Met231Ile
NR_046480.2:n.700G>T