Canonical Allele Identifier: CA7882746

Gene: ROGDI

Linked Data

• ClinVar Variation Id: 461611
• ClinVar RCV Id: RCV000555297 ; RCV003935424 ; RCV003419938
• dbSNP Id: rs375517608
• ExAC: 16:4849702 G / A
• gnomAD v2: 16-4849702-G-A
• gnomAD v3: 16-4799701-G-A
• gnomAD v4: 16-4799701-G-A
• MyVariant Identifiers: chr16:g.4849702G>A (hg19) ; chr16:g.4799701G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4799701G>A , CM000678.2:g.4799701G>A	GRCh38
NC_000016.9:g.4849702G>A , CM000678.1:g.4849702G>A	GRCh37
NC_000016.8:g.4789703G>A	NCBI36
NG_032174.1:g.8250C>T , LRG_455:g.8250C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.417C>T MANE Select	ENSP00000322832.6:p.Gly139=
ENST00000322048.11:c.417C>T	ENSP00000322832.5:p.Gly139=
ENST00000585653.1:n.549C>T
ENST00000586153.1:c.162C>T	ENSP00000464699.1:p.Gly54=
ENST00000586336.5:n.516C>T
ENST00000586504.5:c.197C>T
ENST00000587377.5:c.417C>T	ENSP00000468343.1:p.Gly139=
ENST00000587711.5:c.118-1034C>T	ENSP00000467459.1:n.118-1034C>T
ENST00000587843.5:c.*155C>T	ENSP00000465970.1:n.*155C>T
ENST00000588201.5:c.*274C>T	ENSP00000466529.1:n.*274C>T
ENST00000589543.5:n.374C>T
ENST00000591292.5:n.1746C>T
ENST00000591392.5:c.345C>T	ENSP00000467509.1:p.Gly115=
ENST00000592019.1:c.76+60C>T
NM_024589.2:c.417C>T , LRG_455t1:c.417C>T	NP_078865.1:p.Gly139=
NR_046480.1:n.741C>T
XM_006720947.2:c.417C>T	XP_006721010.1:p.Gly139=
XM_006720948.2:c.147C>T	XP_006721011.1:p.Gly49=
XM_006720947.4:c.417C>T	XP_006721010.1:p.Gly139=
XM_006720948.4:c.147C>T	XP_006721011.1:p.Gly49=
NM_024589.3:c.417C>T MANE Select	NP_078865.1:p.Gly139=
NR_046480.2:n.424C>T