Canonical Allele Identifier: CA394653313

Gene: ROGDI

Linked Data

• MyVariant Identifiers: chr16:g.4849723C>A (hg19) ; chr16:g.4799722C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4799722C>A , CM000678.2:g.4799722C>A	GRCh38
NC_000016.9:g.4849723C>A , CM000678.1:g.4849723C>A	GRCh37
NC_000016.8:g.4789724C>A	NCBI36
NG_032174.1:g.8229G>T , LRG_455:g.8229G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.396G>T MANE Select	ENSP00000322832.6:p.Gln132His
ENST00000322048.11:c.396G>T	ENSP00000322832.5:p.Gln132His
ENST00000585653.1:n.528G>T
ENST00000586153.1:c.141G>T	ENSP00000464699.1:p.Gln47His
ENST00000586336.5:n.495G>T
ENST00000586504.5:c.176G>T
ENST00000587377.5:c.396G>T	ENSP00000468343.1:p.Gln132His
ENST00000587711.5:c.118-1055G>T	ENSP00000467459.1:n.118-1055G>T
ENST00000587843.5:c.*134G>T	ENSP00000465970.1:n.*134G>T
ENST00000588201.5:c.*253G>T	ENSP00000466529.1:n.*253G>T
ENST00000589543.5:n.353G>T
ENST00000591292.5:n.1725G>T
ENST00000591392.5:c.324G>T	ENSP00000467509.1:p.Gln108His
ENST00000592019.1:c.76+39G>T
NM_024589.2:c.396G>T , LRG_455t1:c.396G>T	NP_078865.1:p.Gln132His
NR_046480.1:n.720G>T
XM_006720947.2:c.396G>T	XP_006721010.1:p.Gln132His
XM_006720948.2:c.126G>T	XP_006721011.1:p.Gln42His
XM_006720947.4:c.396G>T	XP_006721010.1:p.Gln132His
XM_006720948.4:c.126G>T	XP_006721011.1:p.Gln42His
NM_024589.3:c.396G>T MANE Select	NP_078865.1:p.Gln132His
NR_046480.2:n.403G>T