Canonical Allele Identifier: CA394649484

Gene: ROGDI

Linked Data

• MyVariant Identifiers: chr16:g.4847958G>T (hg19) ; chr16:g.4797957G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4797957G>T , CM000678.2:g.4797957G>T	GRCh38
NC_000016.9:g.4847958G>T , CM000678.1:g.4847958G>T	GRCh37
NC_000016.8:g.4787959G>T	NCBI36
NG_032174.1:g.9994C>A , LRG_455:g.9994C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.676C>A MANE Select	ENSP00000322832.6:p.His226Asn
ENST00000322048.11:c.676C>A	ENSP00000322832.5:p.His226Asn
ENST00000586153.1:c.322C>A	ENSP00000464699.1:p.His108Asn
ENST00000586336.5:n.775C>A
ENST00000586504.5:c.425+114C>A
ENST00000587377.5:c.689C>A	ENSP00000468343.1:p.Ala230Glu
ENST00000587711.5:c.361C>A	ENSP00000467459.1:p.His121Asn
ENST00000587843.5:c.*414C>A	ENSP00000465970.1:n.*414C>A
ENST00000588201.5:c.*667C>A	ENSP00000466529.1:n.*667C>A
ENST00000589543.5:n.633C>A
ENST00000591292.5:n.2005C>A
ENST00000591392.5:c.604C>A	ENSP00000467509.1:p.His202Asn
ENST00000592019.1:c.77-142C>A
NM_024589.2:c.676C>A , LRG_455t1:c.676C>A	NP_078865.1:p.His226Asn
NR_046480.1:n.1000C>A
XM_006720947.2:c.676C>A	XP_006721010.1:p.His226Asn
XM_006720948.2:c.406C>A	XP_006721011.1:p.His136Asn
XM_006720947.4:c.676C>A	XP_006721010.1:p.His226Asn
XM_006720948.4:c.406C>A	XP_006721011.1:p.His136Asn
NM_024589.3:c.676C>A MANE Select	NP_078865.1:p.His226Asn
NR_046480.2:n.683C>A