Canonical Allele Identifier: CA394649891

Gene: ROGDI

Linked Data

• MyVariant Identifiers: chr16:g.4848080A>T (hg19) ; chr16:g.4798079A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4798079A>T , CM000678.2:g.4798079A>T	GRCh38
NC_000016.9:g.4848080A>T , CM000678.1:g.4848080A>T	GRCh37
NC_000016.8:g.4788081A>T	NCBI36
NG_032174.1:g.9872T>A , LRG_455:g.9872T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.637T>A MANE Select	ENSP00000322832.6:p.Ser213Thr
ENST00000322048.11:c.637T>A	ENSP00000322832.5:p.Ser213Thr
ENST00000586153.1:c.283T>A	ENSP00000464699.1:p.Ser95Thr
ENST00000586336.5:n.736T>A
ENST00000586504.5:c.417T>A
ENST00000587377.5:c.650T>A	ENSP00000468343.1:p.Leu217His
ENST00000587711.5:c.322T>A	ENSP00000467459.1:p.Ser108Thr
ENST00000587843.5:c.*375T>A	ENSP00000465970.1:n.*375T>A
ENST00000588201.5:c.*628T>A	ENSP00000466529.1:n.*628T>A
ENST00000589543.5:n.594T>A
ENST00000591292.5:n.1966T>A
ENST00000591392.5:c.565T>A	ENSP00000467509.1:p.Ser189Thr
ENST00000592019.1:c.77-264T>A
NM_024589.2:c.637T>A , LRG_455t1:c.637T>A	NP_078865.1:p.Ser213Thr
NR_046480.1:n.961T>A
XM_006720947.2:c.637T>A	XP_006721010.1:p.Ser213Thr
XM_006720948.2:c.367T>A	XP_006721011.1:p.Ser123Thr
XM_006720947.4:c.637T>A	XP_006721010.1:p.Ser213Thr
XM_006720948.4:c.367T>A	XP_006721011.1:p.Ser123Thr
NM_024589.3:c.637T>A MANE Select	NP_078865.1:p.Ser213Thr
NR_046480.2:n.644T>A