Canonical Allele Identifier: CA7882760

Gene: ROGDI

Linked Data

• ClinVar Variation Id: 530799
• ClinVar RCV Id: RCV000636836
• dbSNP Id: rs758414235
• ExAC: 16:4849731 G / A
• gnomAD v2: 16-4849731-G-A
• gnomAD v3: 16-4799730-G-A
• gnomAD v4: 16-4799730-G-A
• MyVariant Identifiers: chr16:g.4849731G>A (hg19) ; chr16:g.4799730G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4799730G>A , CM000678.2:g.4799730G>A	GRCh38
NC_000016.9:g.4849731G>A , CM000678.1:g.4849731G>A	GRCh37
NC_000016.8:g.4789732G>A	NCBI36
NG_032174.1:g.8221C>T , LRG_455:g.8221C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.388C>T MANE Select	ENSP00000322832.6:p.Arg130Trp
ENST00000322048.11:c.388C>T	ENSP00000322832.5:p.Arg130Trp
ENST00000585653.1:n.520C>T
ENST00000586153.1:c.133C>T	ENSP00000464699.1:p.Arg45Trp
ENST00000586336.5:n.487C>T
ENST00000586504.5:c.168C>T
ENST00000587377.5:c.388C>T	ENSP00000468343.1:p.Arg130Trp
ENST00000587711.5:c.118-1063C>T	ENSP00000467459.1:n.118-1063C>T
ENST00000587843.5:c.*126C>T	ENSP00000465970.1:n.*126C>T
ENST00000588201.5:c.*245C>T	ENSP00000466529.1:n.*245C>T
ENST00000589543.5:n.345C>T
ENST00000591292.5:n.1717C>T
ENST00000591392.5:c.316C>T	ENSP00000467509.1:p.Arg106Trp
ENST00000592019.1:c.76+31C>T
NM_024589.2:c.388C>T , LRG_455t1:c.388C>T	NP_078865.1:p.Arg130Trp
NR_046480.1:n.712C>T
XM_006720947.2:c.388C>T	XP_006721010.1:p.Arg130Trp
XM_006720948.2:c.118C>T	XP_006721011.1:p.Arg40Trp
XM_006720947.4:c.388C>T	XP_006721010.1:p.Arg130Trp
XM_006720948.4:c.118C>T	XP_006721011.1:p.Arg40Trp
NM_024589.3:c.388C>T MANE Select	NP_078865.1:p.Arg130Trp
NR_046480.2:n.395C>T