Canonical Allele Identifier: CA277137811

Gene: ROGDI

Linked Data

• ClinVar Variation Id: 1621910
• ClinVar RCV Id: RCV002101958
• dbSNP Id: rs979625188
• gnomAD v4: 16-4799670-C-T
• MyVariant Identifiers: chr16:g.4849671C>T (hg19) ; chr16:g.4799670C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4799670C>T , CM000678.2:g.4799670C>T	GRCh38
NC_000016.9:g.4849671C>T , CM000678.1:g.4849671C>T	GRCh37
NC_000016.8:g.4789672C>T	NCBI36
NG_032174.1:g.8281G>A , LRG_455:g.8281G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.432+16G>A MANE Select	ENSP00000322832.6:n.432+16G>A
ENST00000322048.11:c.432+16G>A	ENSP00000322832.5:n.432+16G>A
ENST00000585653.1:n.564+16G>A
ENST00000586153.1:c.177+16G>A	ENSP00000464699.1:n.177+16G>A
ENST00000586336.5:n.531+16G>A
ENST00000586504.5:c.212+16G>A
ENST00000587377.5:c.423+25G>A	ENSP00000468343.1:n.423+25G>A
ENST00000587711.5:c.118-1003G>A	ENSP00000467459.1:n.118-1003G>A
ENST00000587843.5:c.*170+16G>A	ENSP00000465970.1:n.*170+16G>A
ENST00000588201.5:c.*289+16G>A	ENSP00000466529.1:n.*289+16G>A
ENST00000589543.5:n.389+16G>A
ENST00000591292.5:n.1761+16G>A
ENST00000591392.5:c.360+16G>A	ENSP00000467509.1:n.360+16G>A
ENST00000592019.1:c.76+91G>A
NM_024589.2:c.432+16G>A , LRG_455t1:c.432+16G>A	NP_078865.1:n.432+16G>A
NR_046480.1:n.756+16G>A
XM_006720947.2:c.432+16G>A	XP_006721010.1:n.432+16G>A
XM_006720948.2:c.162+16G>A	XP_006721011.1:n.162+16G>A
XM_006720947.4:c.432+16G>A	XP_006721010.1:n.432+16G>A
XM_006720948.4:c.162+16G>A	XP_006721011.1:n.162+16G>A
NM_024589.3:c.432+16G>A MANE Select	NP_078865.1:n.432+16G>A
NR_046480.2:n.439+16G>A