Canonical Allele Identifier: CA493320336

Gene: ROGDI

Linked Data

• MyVariant Identifiers: chr16:g.4849750G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4799749G>A , CM000678.2:g.4799749G>A	GRCh38
NC_000016.9:g.4849750G>A , CM000678.1:g.4849750G>A	GRCh37
NC_000016.8:g.4789751G>A	NCBI36
NG_032174.1:g.8202C>T , LRG_455:g.8202C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.369C>T MANE Select	ENSP00000322832.6:p.Ala123=
ENST00000322048.11:c.369C>T	ENSP00000322832.5:p.Ala123=
ENST00000585653.1:n.501C>T
ENST00000586153.1:c.114C>T	ENSP00000464699.1:p.Ala38=
ENST00000586336.5:n.468C>T
ENST00000586504.5:c.149C>T
ENST00000587377.5:c.369C>T	ENSP00000468343.1:p.Ala123=
ENST00000587711.5:c.118-1082C>T	ENSP00000467459.1:n.118-1082C>T
ENST00000587843.5:c.*107C>T	ENSP00000465970.1:n.*107C>T
ENST00000588201.5:c.*226C>T	ENSP00000466529.1:n.*226C>T
ENST00000589543.5:n.326C>T
ENST00000591292.5:n.1698C>T
ENST00000591392.5:c.297C>T	ENSP00000467509.1:p.Ala99=
ENST00000592019.1:c.76+12C>T
NM_024589.2:c.369C>T , LRG_455t1:c.369C>T	NP_078865.1:p.Ala123=
NR_046480.1:n.693C>T
XM_006720947.2:c.369C>T	XP_006721010.1:p.Ala123=
XM_006720948.2:c.99C>T	XP_006721011.1:p.Ala33=
XM_006720947.4:c.369C>T	XP_006721010.1:p.Ala123=
XM_006720948.4:c.99C>T	XP_006721011.1:p.Ala33=
NM_024589.3:c.369C>T MANE Select	NP_078865.1:p.Ala123=
NR_046480.2:n.376C>T