Canonical Allele Identifier: CA493320352

Gene: ROGDI

Linked Data

• dbSNP Id: rs1161829085
• gnomAD v2: 16-4849780-G-A
• gnomAD v4: 16-4799779-G-A
• MyVariant Identifiers: chr16:g.4849780G>A (hg19) ; chr16:g.4799779G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4799779G>A , CM000678.2:g.4799779G>A	GRCh38
NC_000016.9:g.4849780G>A , CM000678.1:g.4849780G>A	GRCh37
NC_000016.8:g.4789781G>A	NCBI36
NG_032174.1:g.8172C>T , LRG_455:g.8172C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.339C>T MANE Select	ENSP00000322832.6:p.Ile113=
ENST00000322048.11:c.339C>T	ENSP00000322832.5:p.Ile113=
ENST00000585653.1:n.471C>T
ENST00000586153.1:c.84C>T	ENSP00000464699.1:p.Ile28=
ENST00000586336.5:n.438C>T
ENST00000586504.5:c.119C>T
ENST00000587377.5:c.339C>T	ENSP00000468343.1:p.Ile113=
ENST00000587711.5:c.118-1112C>T	ENSP00000467459.1:n.118-1112C>T
ENST00000587843.5:c.*77C>T	ENSP00000465970.1:n.*77C>T
ENST00000588201.5:c.*196C>T	ENSP00000466529.1:n.*196C>T
ENST00000589543.5:n.296C>T
ENST00000591292.5:n.1668C>T
ENST00000591392.5:c.267C>T	ENSP00000467509.1:p.Ile89=
ENST00000592019.1:c.58C>T
NM_024589.2:c.339C>T , LRG_455t1:c.339C>T	NP_078865.1:p.Ile113=
NR_046480.1:n.663C>T
XM_006720947.2:c.339C>T	XP_006721010.1:p.Ile113=
XM_006720948.2:c.69C>T	XP_006721011.1:p.Ile23=
XM_006720947.4:c.339C>T	XP_006721010.1:p.Ile113=
XM_006720948.4:c.69C>T	XP_006721011.1:p.Ile23=
NM_024589.3:c.339C>T MANE Select	NP_078865.1:p.Ile113=
NR_046480.2:n.346C>T