Canonical Allele Identifier: CA394653245

Gene: ROGDI

Linked Data

• MyVariant Identifiers: chr16:g.4849710T>A (hg19) ; chr16:g.4799709T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4799709T>A , CM000678.2:g.4799709T>A	GRCh38
NC_000016.9:g.4849710T>A , CM000678.1:g.4849710T>A	GRCh37
NC_000016.8:g.4789711T>A	NCBI36
NG_032174.1:g.8242A>T , LRG_455:g.8242A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.409A>T MANE Select	ENSP00000322832.6:p.Lys137Ter
ENST00000322048.11:c.409A>T	ENSP00000322832.5:p.Lys137Ter
ENST00000585653.1:n.541A>T
ENST00000586153.1:c.154A>T	ENSP00000464699.1:p.Lys52Ter
ENST00000586336.5:n.508A>T
ENST00000586504.5:c.189A>T
ENST00000587377.5:c.409A>T	ENSP00000468343.1:p.Lys137Ter
ENST00000587711.5:c.118-1042A>T	ENSP00000467459.1:n.118-1042A>T
ENST00000587843.5:c.*147A>T	ENSP00000465970.1:n.*147A>T
ENST00000588201.5:c.*266A>T	ENSP00000466529.1:n.*266A>T
ENST00000589543.5:n.366A>T
ENST00000591292.5:n.1738A>T
ENST00000591392.5:c.337A>T	ENSP00000467509.1:p.Lys113Ter
ENST00000592019.1:c.76+52A>T
NM_024589.2:c.409A>T , LRG_455t1:c.409A>T	NP_078865.1:p.Lys137Ter
NR_046480.1:n.733A>T
XM_006720947.2:c.409A>T	XP_006721010.1:p.Lys137Ter
XM_006720948.2:c.139A>T	XP_006721011.1:p.Lys47Ter
XM_006720947.4:c.409A>T	XP_006721010.1:p.Lys137Ter
XM_006720948.4:c.139A>T	XP_006721011.1:p.Lys47Ter
NM_024589.3:c.409A>T MANE Select	NP_078865.1:p.Lys137Ter
NR_046480.2:n.416A>T