Canonical Allele Identifier: CA394653496

Gene: ROGDI

Linked Data

• MyVariant Identifiers: chr16:g.4849752C>G (hg19) ; chr16:g.4799751C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4799751C>G , CM000678.2:g.4799751C>G	GRCh38
NC_000016.9:g.4849752C>G , CM000678.1:g.4849752C>G	GRCh37
NC_000016.8:g.4789753C>G	NCBI36
NG_032174.1:g.8200G>C , LRG_455:g.8200G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.367G>C MANE Select	ENSP00000322832.6:p.Ala123Pro
ENST00000322048.11:c.367G>C	ENSP00000322832.5:p.Ala123Pro
ENST00000585653.1:n.499G>C
ENST00000586153.1:c.112G>C	ENSP00000464699.1:p.Ala38Pro
ENST00000586336.5:n.466G>C
ENST00000586504.5:c.147G>C
ENST00000587377.5:c.367G>C	ENSP00000468343.1:p.Ala123Pro
ENST00000587711.5:c.118-1084G>C	ENSP00000467459.1:n.118-1084G>C
ENST00000587843.5:c.*105G>C	ENSP00000465970.1:n.*105G>C
ENST00000588201.5:c.*224G>C	ENSP00000466529.1:n.*224G>C
ENST00000589543.5:n.324G>C
ENST00000591292.5:n.1696G>C
ENST00000591392.5:c.295G>C	ENSP00000467509.1:p.Ala99Pro
ENST00000592019.1:c.76+10G>C
NM_024589.2:c.367G>C , LRG_455t1:c.367G>C	NP_078865.1:p.Ala123Pro
NR_046480.1:n.691G>C
XM_006720947.2:c.367G>C	XP_006721010.1:p.Ala123Pro
XM_006720948.2:c.97G>C	XP_006721011.1:p.Ala33Pro
XM_006720947.4:c.367G>C	XP_006721010.1:p.Ala123Pro
XM_006720948.4:c.97G>C	XP_006721011.1:p.Ala33Pro
NM_024589.3:c.367G>C MANE Select	NP_078865.1:p.Ala123Pro
NR_046480.2:n.374G>C