Canonical Allele Identifier: CA2631550438

Gene: ROGDI

Linked Data

• gnomAD v4: 16-4798067-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4798067T>C , CM000678.2:g.4798067T>C	GRCh38
NC_000016.9:g.4848068T>C , CM000678.1:g.4848068T>C	GRCh37
NC_000016.8:g.4788069T>C	NCBI36
NG_032174.1:g.9884A>G , LRG_455:g.9884A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.645+4A>G MANE Select	ENSP00000322832.6:n.645+4A>G
ENST00000322048.11:c.645+4A>G	ENSP00000322832.5:n.645+4A>G
ENST00000586153.1:c.291+4A>G	ENSP00000464699.1:n.291+4A>G
ENST00000586336.5:n.744+4A>G
ENST00000586504.5:c.425+4A>G
ENST00000587377.5:c.658+4A>G	ENSP00000468343.1:n.658+4A>G
ENST00000587711.5:c.330+4A>G	ENSP00000467459.1:n.330+4A>G
ENST00000587843.5:c.*383+4A>G	ENSP00000465970.1:n.*383+4A>G
ENST00000588201.5:c.*636+4A>G	ENSP00000466529.1:n.*636+4A>G
ENST00000589543.5:n.602+4A>G
ENST00000591292.5:n.1974+4A>G
ENST00000591392.5:c.573+4A>G	ENSP00000467509.1:n.573+4A>G
ENST00000592019.1:c.77-252A>G
NM_024589.2:c.645+4A>G , LRG_455t1:c.645+4A>G	NP_078865.1:n.645+4A>G
NR_046480.1:n.969+4A>G
XM_006720947.2:c.645+4A>G	XP_006721010.1:n.645+4A>G
XM_006720948.2:c.375+4A>G	XP_006721011.1:n.375+4A>G
XM_006720947.4:c.645+4A>G	XP_006721010.1:n.645+4A>G
XM_006720948.4:c.375+4A>G	XP_006721011.1:n.375+4A>G
NM_024589.3:c.645+4A>G MANE Select	NP_078865.1:n.645+4A>G
NR_046480.2:n.652+4A>G