Canonical Allele Identifier: CA394653477

Gene: ROGDI

Linked Data

• dbSNP Id: rs2082694821
• MyVariant Identifiers: chr16:g.4849749T>C (hg19) ; chr16:g.4799748T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4799748T>C , CM000678.2:g.4799748T>C	GRCh38
NC_000016.9:g.4849749T>C , CM000678.1:g.4849749T>C	GRCh37
NC_000016.8:g.4789750T>C	NCBI36
NG_032174.1:g.8203A>G , LRG_455:g.8203A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.370A>G MANE Select	ENSP00000322832.6:p.Ile124Val
ENST00000322048.11:c.370A>G	ENSP00000322832.5:p.Ile124Val
ENST00000585653.1:n.502A>G
ENST00000586153.1:c.115A>G	ENSP00000464699.1:p.Ile39Val
ENST00000586336.5:n.469A>G
ENST00000586504.5:c.150A>G
ENST00000587377.5:c.370A>G	ENSP00000468343.1:p.Ile124Val
ENST00000587711.5:c.118-1081A>G	ENSP00000467459.1:n.118-1081A>G
ENST00000587843.5:c.*108A>G	ENSP00000465970.1:n.*108A>G
ENST00000588201.5:c.*227A>G	ENSP00000466529.1:n.*227A>G
ENST00000589543.5:n.327A>G
ENST00000591292.5:n.1699A>G
ENST00000591392.5:c.298A>G	ENSP00000467509.1:p.Ile100Val
ENST00000592019.1:c.76+13A>G
NM_024589.2:c.370A>G , LRG_455t1:c.370A>G	NP_078865.1:p.Ile124Val
NR_046480.1:n.694A>G
XM_006720947.2:c.370A>G	XP_006721010.1:p.Ile124Val
XM_006720948.2:c.100A>G	XP_006721011.1:p.Ile34Val
XM_006720947.4:c.370A>G	XP_006721010.1:p.Ile124Val
XM_006720948.4:c.100A>G	XP_006721011.1:p.Ile34Val
NM_024589.3:c.370A>G MANE Select	NP_078865.1:p.Ile124Val
NR_046480.2:n.377A>G