Canonical Allele Identifier: CA394649716

Gene: ROGDI

Linked Data

• MyVariant Identifiers: chr16:g.4847987T>A (hg19) ; chr16:g.4797986T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4797986T>A , CM000678.2:g.4797986T>A	GRCh38
NC_000016.9:g.4847987T>A , CM000678.1:g.4847987T>A	GRCh37
NC_000016.8:g.4787988T>A	NCBI36
NG_032174.1:g.9965A>T , LRG_455:g.9965A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.647A>T MANE Select	ENSP00000322832.6:p.Asn216Ile
ENST00000322048.11:c.647A>T	ENSP00000322832.5:p.Asn216Ile
ENST00000586153.1:c.293A>T	ENSP00000464699.1:p.Asn98Ile
ENST00000586336.5:n.746A>T
ENST00000586504.5:c.425+85A>T
ENST00000587377.5:c.660A>T	ENSP00000468343.1:p.Glu220Asp
ENST00000587711.5:c.332A>T	ENSP00000467459.1:p.Asn111Ile
ENST00000587843.5:c.*385A>T	ENSP00000465970.1:n.*385A>T
ENST00000588201.5:c.*638A>T	ENSP00000466529.1:n.*638A>T
ENST00000589543.5:n.604A>T
ENST00000591292.5:n.1976A>T
ENST00000591392.5:c.575A>T	ENSP00000467509.1:p.Asn192Ile
ENST00000592019.1:c.77-171A>T
NM_024589.2:c.647A>T , LRG_455t1:c.647A>T	NP_078865.1:p.Asn216Ile
NR_046480.1:n.971A>T
XM_006720947.2:c.647A>T	XP_006721010.1:p.Asn216Ile
XM_006720948.2:c.377A>T	XP_006721011.1:p.Asn126Ile
XM_006720947.4:c.647A>T	XP_006721010.1:p.Asn216Ile
XM_006720948.4:c.377A>T	XP_006721011.1:p.Asn126Ile
NM_024589.3:c.647A>T MANE Select	NP_078865.1:p.Asn216Ile
NR_046480.2:n.654A>T