Canonical Allele Identifier: CA394653251

Gene: ROGDI

Linked Data

• ClinVar Variation Id: 1987315
• ClinVar RCV Id: RCV002775892
• gnomAD v4: 16-4799710-G-T
• MyVariant Identifiers: chr16:g.4849711G>T (hg19) ; chr16:g.4799710G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4799710G>T , CM000678.2:g.4799710G>T	GRCh38
NC_000016.9:g.4849711G>T , CM000678.1:g.4849711G>T	GRCh37
NC_000016.8:g.4789712G>T	NCBI36
NG_032174.1:g.8241C>A , LRG_455:g.8241C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.408C>A MANE Select	ENSP00000322832.6:p.Phe136Leu
ENST00000322048.11:c.408C>A	ENSP00000322832.5:p.Phe136Leu
ENST00000585653.1:n.540C>A
ENST00000586153.1:c.153C>A	ENSP00000464699.1:p.Phe51Leu
ENST00000586336.5:n.507C>A
ENST00000586504.5:c.188C>A
ENST00000587377.5:c.408C>A	ENSP00000468343.1:p.Phe136Leu
ENST00000587711.5:c.118-1043C>A	ENSP00000467459.1:n.118-1043C>A
ENST00000587843.5:c.*146C>A	ENSP00000465970.1:n.*146C>A
ENST00000588201.5:c.*265C>A	ENSP00000466529.1:n.*265C>A
ENST00000589543.5:n.365C>A
ENST00000591292.5:n.1737C>A
ENST00000591392.5:c.336C>A	ENSP00000467509.1:p.Phe112Leu
ENST00000592019.1:c.76+51C>A
NM_024589.2:c.408C>A , LRG_455t1:c.408C>A	NP_078865.1:p.Phe136Leu
NR_046480.1:n.732C>A
XM_006720947.2:c.408C>A	XP_006721010.1:p.Phe136Leu
XM_006720948.2:c.138C>A	XP_006721011.1:p.Phe46Leu
XM_006720947.4:c.408C>A	XP_006721010.1:p.Phe136Leu
XM_006720948.4:c.138C>A	XP_006721011.1:p.Phe46Leu
NM_024589.3:c.408C>A MANE Select	NP_078865.1:p.Phe136Leu
NR_046480.2:n.415C>A