Canonical Allele Identifier: CA394650078

Gene: ROGDI

Linked Data

• MyVariant Identifiers: chr16:g.4848098G>T (hg19) ; chr16:g.4798097G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4798097G>T , CM000678.2:g.4798097G>T	GRCh38
NC_000016.9:g.4848098G>T , CM000678.1:g.4848098G>T	GRCh37
NC_000016.8:g.4788099G>T	NCBI36
NG_032174.1:g.9854C>A , LRG_455:g.9854C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.619C>A MANE Select	ENSP00000322832.6:p.His207Asn
ENST00000322048.11:c.619C>A	ENSP00000322832.5:p.His207Asn
ENST00000586153.1:c.265C>A	ENSP00000464699.1:p.His89Asn
ENST00000586336.5:n.718C>A
ENST00000586504.5:c.399C>A
ENST00000587377.5:c.632C>A	ENSP00000468343.1:p.Ala211Glu
ENST00000587711.5:c.304C>A	ENSP00000467459.1:p.His102Asn
ENST00000587843.5:c.*357C>A	ENSP00000465970.1:n.*357C>A
ENST00000588201.5:c.*610C>A	ENSP00000466529.1:n.*610C>A
ENST00000589543.5:n.576C>A
ENST00000591292.5:n.1948C>A
ENST00000591392.5:c.547C>A	ENSP00000467509.1:p.His183Asn
ENST00000592019.1:c.77-282C>A
NM_024589.2:c.619C>A , LRG_455t1:c.619C>A	NP_078865.1:p.His207Asn
NR_046480.1:n.943C>A
XM_006720947.2:c.619C>A	XP_006721010.1:p.His207Asn
XM_006720948.2:c.349C>A	XP_006721011.1:p.His117Asn
XM_006720947.4:c.619C>A	XP_006721010.1:p.His207Asn
XM_006720948.4:c.349C>A	XP_006721011.1:p.His117Asn
NM_024589.3:c.619C>A MANE Select	NP_078865.1:p.His207Asn
NR_046480.2:n.626C>A