Canonical Allele Identifier: CA394653239

Gene: ROGDI

Linked Data

• MyVariant Identifiers: chr16:g.4849709T>G (hg19) ; chr16:g.4799708T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4799708T>G , CM000678.2:g.4799708T>G	GRCh38
NC_000016.9:g.4849709T>G , CM000678.1:g.4849709T>G	GRCh37
NC_000016.8:g.4789710T>G	NCBI36
NG_032174.1:g.8243A>C , LRG_455:g.8243A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.410A>C MANE Select	ENSP00000322832.6:p.Lys137Thr
ENST00000322048.11:c.410A>C	ENSP00000322832.5:p.Lys137Thr
ENST00000585653.1:n.542A>C
ENST00000586153.1:c.155A>C	ENSP00000464699.1:p.Lys52Thr
ENST00000586336.5:n.509A>C
ENST00000586504.5:c.190A>C
ENST00000587377.5:c.410A>C	ENSP00000468343.1:p.Lys137Thr
ENST00000587711.5:c.118-1041A>C	ENSP00000467459.1:n.118-1041A>C
ENST00000587843.5:c.*148A>C	ENSP00000465970.1:n.*148A>C
ENST00000588201.5:c.*267A>C	ENSP00000466529.1:n.*267A>C
ENST00000589543.5:n.367A>C
ENST00000591292.5:n.1739A>C
ENST00000591392.5:c.338A>C	ENSP00000467509.1:p.Lys113Thr
ENST00000592019.1:c.76+53A>C
NM_024589.2:c.410A>C , LRG_455t1:c.410A>C	NP_078865.1:p.Lys137Thr
NR_046480.1:n.734A>C
XM_006720947.2:c.410A>C	XP_006721010.1:p.Lys137Thr
XM_006720948.2:c.140A>C	XP_006721011.1:p.Lys47Thr
XM_006720947.4:c.410A>C	XP_006721010.1:p.Lys137Thr
XM_006720948.4:c.140A>C	XP_006721011.1:p.Lys47Thr
NM_024589.3:c.410A>C MANE Select	NP_078865.1:p.Lys137Thr
NR_046480.2:n.417A>C