Canonical Allele Identifier: CA394653378

Gene: ROGDI

Linked Data

• gnomAD v4: 16-4799735-G-C
• MyVariant Identifiers: chr16:g.4849736G>C (hg19) ; chr16:g.4799735G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4799735G>C , CM000678.2:g.4799735G>C	GRCh38
NC_000016.9:g.4849736G>C , CM000678.1:g.4849736G>C	GRCh37
NC_000016.8:g.4789737G>C	NCBI36
NG_032174.1:g.8216C>G , LRG_455:g.8216C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.383C>G MANE Select	ENSP00000322832.6:p.Thr128Ser
ENST00000322048.11:c.383C>G	ENSP00000322832.5:p.Thr128Ser
ENST00000585653.1:n.515C>G
ENST00000586153.1:c.128C>G	ENSP00000464699.1:p.Thr43Ser
ENST00000586336.5:n.482C>G
ENST00000586504.5:c.163C>G
ENST00000587377.5:c.383C>G	ENSP00000468343.1:p.Thr128Ser
ENST00000587711.5:c.118-1068C>G	ENSP00000467459.1:n.118-1068C>G
ENST00000587843.5:c.*121C>G	ENSP00000465970.1:n.*121C>G
ENST00000588201.5:c.*240C>G	ENSP00000466529.1:n.*240C>G
ENST00000589543.5:n.340C>G
ENST00000591292.5:n.1712C>G
ENST00000591392.5:c.311C>G	ENSP00000467509.1:p.Thr104Ser
ENST00000592019.1:c.76+26C>G
NM_024589.2:c.383C>G , LRG_455t1:c.383C>G	NP_078865.1:p.Thr128Ser
NR_046480.1:n.707C>G
XM_006720947.2:c.383C>G	XP_006721010.1:p.Thr128Ser
XM_006720948.2:c.113C>G	XP_006721011.1:p.Thr38Ser
XM_006720947.4:c.383C>G	XP_006721010.1:p.Thr128Ser
XM_006720948.4:c.113C>G	XP_006721011.1:p.Thr38Ser
NM_024589.3:c.383C>G MANE Select	NP_078865.1:p.Thr128Ser
NR_046480.2:n.390C>G