Canonical Allele Identifier: CA394653172

Gene: ROGDI

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.425T>G MANE Select	ENSP00000322832.6:p.Val142Gly
ENST00000322048.11:c.425T>G	ENSP00000322832.5:p.Val142Gly
ENST00000585653.1:n.557T>G
ENST00000586153.1:c.170T>G	ENSP00000464699.1:p.Val57Gly
ENST00000586336.5:n.524T>G
ENST00000586504.5:c.205T>G
ENST00000587377.5:c.423+2T>G	ENSP00000468343.1:n.423+2T>G
ENST00000587711.5:c.118-1026T>G	ENSP00000467459.1:n.118-1026T>G
ENST00000587843.5:c.*163T>G	ENSP00000465970.1:n.*163T>G
ENST00000588201.5:c.*282T>G	ENSP00000466529.1:n.*282T>G
ENST00000589543.5:n.382T>G
ENST00000591292.5:n.1754T>G
ENST00000591392.5:c.353T>G	ENSP00000467509.1:p.Val118Gly
ENST00000592019.1:c.76+68T>G
NM_024589.2:c.425T>G , LRG_455t1:c.425T>G	NP_078865.1:p.Val142Gly
NR_046480.1:n.749T>G
XM_006720947.2:c.425T>G	XP_006721010.1:p.Val142Gly
XM_006720948.2:c.155T>G	XP_006721011.1:p.Val52Gly
XM_006720947.4:c.425T>G	XP_006721010.1:p.Val142Gly
XM_006720948.4:c.155T>G	XP_006721011.1:p.Val52Gly
NM_024589.3:c.425T>G MANE Select	NP_078865.1:p.Val142Gly
NR_046480.2:n.432T>G