Canonical Allele Identifier: CA394650376

Gene: ROGDI

Linked Data

• MyVariant Identifiers: chr16:g.4848134T>A (hg19) ; chr16:g.4798133T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4798133T>A , CM000678.2:g.4798133T>A	GRCh38
NC_000016.9:g.4848134T>A , CM000678.1:g.4848134T>A	GRCh37
NC_000016.8:g.4788135T>A	NCBI36
NG_032174.1:g.9818A>T , LRG_455:g.9818A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.583A>T MANE Select	ENSP00000322832.6:p.Asn195Tyr
ENST00000322048.11:c.583A>T	ENSP00000322832.5:p.Asn195Tyr
ENST00000586153.1:c.229A>T	ENSP00000464699.1:p.Asn77Tyr
ENST00000586336.5:n.682A>T
ENST00000586504.5:c.363A>T
ENST00000587377.5:c.596A>T	ENSP00000468343.1:p.Gln199Leu
ENST00000587711.5:c.268A>T	ENSP00000467459.1:p.Asn90Tyr
ENST00000587843.5:c.*321A>T	ENSP00000465970.1:n.*321A>T
ENST00000588201.5:c.*574A>T	ENSP00000466529.1:n.*574A>T
ENST00000589543.5:n.540A>T
ENST00000591292.5:n.1912A>T
ENST00000591392.5:c.511A>T	ENSP00000467509.1:p.Asn171Tyr
ENST00000592019.1:c.77-318A>T
NM_024589.2:c.583A>T , LRG_455t1:c.583A>T	NP_078865.1:p.Asn195Tyr
NR_046480.1:n.907A>T
XM_006720947.2:c.583A>T	XP_006721010.1:p.Asn195Tyr
XM_006720948.2:c.313A>T	XP_006721011.1:p.Asn105Tyr
XM_006720947.4:c.583A>T	XP_006721010.1:p.Asn195Tyr
XM_006720948.4:c.313A>T	XP_006721011.1:p.Asn105Tyr
NM_024589.3:c.583A>T MANE Select	NP_078865.1:p.Asn195Tyr
NR_046480.2:n.590A>T