Canonical Allele Identifier: CA394650159

Gene: ROGDI

Linked Data

• MyVariant Identifiers: chr16:g.4848107A>T (hg19) ; chr16:g.4798106A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4798106A>T , CM000678.2:g.4798106A>T	GRCh38
NC_000016.9:g.4848107A>T , CM000678.1:g.4848107A>T	GRCh37
NC_000016.8:g.4788108A>T	NCBI36
NG_032174.1:g.9845T>A , LRG_455:g.9845T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.610T>A MANE Select	ENSP00000322832.6:p.Tyr204Asn
ENST00000322048.11:c.610T>A	ENSP00000322832.5:p.Tyr204Asn
ENST00000586153.1:c.256T>A	ENSP00000464699.1:p.Tyr86Asn
ENST00000586336.5:n.709T>A
ENST00000586504.5:c.390T>A
ENST00000587377.5:c.623T>A	ENSP00000468343.1:p.Val208Glu
ENST00000587711.5:c.295T>A	ENSP00000467459.1:p.Tyr99Asn
ENST00000587843.5:c.*348T>A	ENSP00000465970.1:n.*348T>A
ENST00000588201.5:c.*601T>A	ENSP00000466529.1:n.*601T>A
ENST00000589543.5:n.567T>A
ENST00000591292.5:n.1939T>A
ENST00000591392.5:c.538T>A	ENSP00000467509.1:p.Tyr180Asn
ENST00000592019.1:c.77-291T>A
NM_024589.2:c.610T>A , LRG_455t1:c.610T>A	NP_078865.1:p.Tyr204Asn
NR_046480.1:n.934T>A
XM_006720947.2:c.610T>A	XP_006721010.1:p.Tyr204Asn
XM_006720948.2:c.340T>A	XP_006721011.1:p.Tyr114Asn
XM_006720947.4:c.610T>A	XP_006721010.1:p.Tyr204Asn
XM_006720948.4:c.340T>A	XP_006721011.1:p.Tyr114Asn
NM_024589.3:c.610T>A MANE Select	NP_078865.1:p.Tyr204Asn
NR_046480.2:n.617T>A