Canonical Allele Identifier: CA394653173

Gene: ROGDI

Linked Data

• MyVariant Identifiers: chr16:g.4849694A>G (hg19) ; chr16:g.4799693A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4799693A>G , CM000678.2:g.4799693A>G	GRCh38
NC_000016.9:g.4849694A>G , CM000678.1:g.4849694A>G	GRCh37
NC_000016.8:g.4789695A>G	NCBI36
NG_032174.1:g.8258T>C , LRG_455:g.8258T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.425T>C MANE Select	ENSP00000322832.6:p.Val142Ala
ENST00000322048.11:c.425T>C	ENSP00000322832.5:p.Val142Ala
ENST00000585653.1:n.557T>C
ENST00000586153.1:c.170T>C	ENSP00000464699.1:p.Val57Ala
ENST00000586336.5:n.524T>C
ENST00000586504.5:c.205T>C
ENST00000587377.5:c.423+2T>C	ENSP00000468343.1:n.423+2T>C
ENST00000587711.5:c.118-1026T>C	ENSP00000467459.1:n.118-1026T>C
ENST00000587843.5:c.*163T>C	ENSP00000465970.1:n.*163T>C
ENST00000588201.5:c.*282T>C	ENSP00000466529.1:n.*282T>C
ENST00000589543.5:n.382T>C
ENST00000591292.5:n.1754T>C
ENST00000591392.5:c.353T>C	ENSP00000467509.1:p.Val118Ala
ENST00000592019.1:c.76+68T>C
NM_024589.2:c.425T>C , LRG_455t1:c.425T>C	NP_078865.1:p.Val142Ala
NR_046480.1:n.749T>C
XM_006720947.2:c.425T>C	XP_006721010.1:p.Val142Ala
XM_006720948.2:c.155T>C	XP_006721011.1:p.Val52Ala
XM_006720947.4:c.425T>C	XP_006721010.1:p.Val142Ala
XM_006720948.4:c.155T>C	XP_006721011.1:p.Val52Ala
NM_024589.3:c.425T>C MANE Select	NP_078865.1:p.Val142Ala
NR_046480.2:n.432T>C