Canonical Allele Identifier: CA394653301

Gene: ROGDI

Linked Data

• MyVariant Identifiers: chr16:g.4849720G>T (hg19) ; chr16:g.4799719G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4799719G>T , CM000678.2:g.4799719G>T	GRCh38
NC_000016.9:g.4849720G>T , CM000678.1:g.4849720G>T	GRCh37
NC_000016.8:g.4789721G>T	NCBI36
NG_032174.1:g.8232C>A , LRG_455:g.8232C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.399C>A MANE Select	ENSP00000322832.6:p.Ser133Arg
ENST00000322048.11:c.399C>A	ENSP00000322832.5:p.Ser133Arg
ENST00000585653.1:n.531C>A
ENST00000586153.1:c.144C>A	ENSP00000464699.1:p.Ser48Arg
ENST00000586336.5:n.498C>A
ENST00000586504.5:c.179C>A
ENST00000587377.5:c.399C>A	ENSP00000468343.1:p.Ser133Arg
ENST00000587711.5:c.118-1052C>A	ENSP00000467459.1:n.118-1052C>A
ENST00000587843.5:c.*137C>A	ENSP00000465970.1:n.*137C>A
ENST00000588201.5:c.*256C>A	ENSP00000466529.1:n.*256C>A
ENST00000589543.5:n.356C>A
ENST00000591292.5:n.1728C>A
ENST00000591392.5:c.327C>A	ENSP00000467509.1:p.Ser109Arg
ENST00000592019.1:c.76+42C>A
NM_024589.2:c.399C>A , LRG_455t1:c.399C>A	NP_078865.1:p.Ser133Arg
NR_046480.1:n.723C>A
XM_006720947.2:c.399C>A	XP_006721010.1:p.Ser133Arg
XM_006720948.2:c.129C>A	XP_006721011.1:p.Ser43Arg
XM_006720947.4:c.399C>A	XP_006721010.1:p.Ser133Arg
XM_006720948.4:c.129C>A	XP_006721011.1:p.Ser43Arg
NM_024589.3:c.399C>A MANE Select	NP_078865.1:p.Ser133Arg
NR_046480.2:n.406C>A