Canonical Allele Identifier: CA394650460

Gene: ROGDI

Linked Data

• MyVariant Identifiers: chr16:g.4848145T>A (hg19) ; chr16:g.4798144T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4798144T>A , CM000678.2:g.4798144T>A	GRCh38
NC_000016.9:g.4848145T>A , CM000678.1:g.4848145T>A	GRCh37
NC_000016.8:g.4788146T>A	NCBI36
NG_032174.1:g.9807A>T , LRG_455:g.9807A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.572A>T MANE Select	ENSP00000322832.6:p.Asn191Ile
ENST00000322048.11:c.572A>T	ENSP00000322832.5:p.Asn191Ile
ENST00000586153.1:c.218A>T	ENSP00000464699.1:p.Asn73Ile
ENST00000586336.5:n.671A>T
ENST00000586504.5:c.352A>T
ENST00000587377.5:c.585A>T	ENSP00000468343.1:p.Gln195His
ENST00000587711.5:c.257A>T	ENSP00000467459.1:p.Asn86Ile
ENST00000587843.5:c.*310A>T	ENSP00000465970.1:n.*310A>T
ENST00000588201.5:c.*563A>T	ENSP00000466529.1:n.*563A>T
ENST00000589543.5:n.529A>T
ENST00000591292.5:n.1901A>T
ENST00000591392.5:c.500A>T	ENSP00000467509.1:p.Asn167Ile
ENST00000592019.1:c.77-329A>T
NM_024589.2:c.572A>T , LRG_455t1:c.572A>T	NP_078865.1:p.Asn191Ile
NR_046480.1:n.896A>T
XM_006720947.2:c.572A>T	XP_006721010.1:p.Asn191Ile
XM_006720948.2:c.302A>T	XP_006721011.1:p.Asn101Ile
XM_006720947.4:c.572A>T	XP_006721010.1:p.Asn191Ile
XM_006720948.4:c.302A>T	XP_006721011.1:p.Asn101Ile
NM_024589.3:c.572A>T MANE Select	NP_078865.1:p.Asn191Ile
NR_046480.2:n.579A>T