Canonical Allele Identifier: CA394653387

Gene: ROGDI

Linked Data

• MyVariant Identifiers: chr16:g.4849737T>A (hg19) ; chr16:g.4799736T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4799736T>A , CM000678.2:g.4799736T>A	GRCh38
NC_000016.9:g.4849737T>A , CM000678.1:g.4849737T>A	GRCh37
NC_000016.8:g.4789738T>A	NCBI36
NG_032174.1:g.8215A>T , LRG_455:g.8215A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.382A>T MANE Select	ENSP00000322832.6:p.Thr128Ser
ENST00000322048.11:c.382A>T	ENSP00000322832.5:p.Thr128Ser
ENST00000585653.1:n.514A>T
ENST00000586153.1:c.127A>T	ENSP00000464699.1:p.Thr43Ser
ENST00000586336.5:n.481A>T
ENST00000586504.5:c.162A>T
ENST00000587377.5:c.382A>T	ENSP00000468343.1:p.Thr128Ser
ENST00000587711.5:c.118-1069A>T	ENSP00000467459.1:n.118-1069A>T
ENST00000587843.5:c.*120A>T	ENSP00000465970.1:n.*120A>T
ENST00000588201.5:c.*239A>T	ENSP00000466529.1:n.*239A>T
ENST00000589543.5:n.339A>T
ENST00000591292.5:n.1711A>T
ENST00000591392.5:c.310A>T	ENSP00000467509.1:p.Thr104Ser
ENST00000592019.1:c.76+25A>T
NM_024589.2:c.382A>T , LRG_455t1:c.382A>T	NP_078865.1:p.Thr128Ser
NR_046480.1:n.706A>T
XM_006720947.2:c.382A>T	XP_006721010.1:p.Thr128Ser
XM_006720948.2:c.112A>T	XP_006721011.1:p.Thr38Ser
XM_006720947.4:c.382A>T	XP_006721010.1:p.Thr128Ser
XM_006720948.4:c.112A>T	XP_006721011.1:p.Thr38Ser
NM_024589.3:c.382A>T MANE Select	NP_078865.1:p.Thr128Ser
NR_046480.2:n.389A>T