Canonical Allele Identifier: CA2631551590

Gene: ROGDI

Linked Data

• gnomAD v4: 16-4798457-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4798457G>A , CM000678.2:g.4798457G>A	GRCh38
NC_000016.9:g.4848458G>A , CM000678.1:g.4848458G>A	GRCh37
NC_000016.8:g.4788459G>A	NCBI36
NG_032174.1:g.9494C>T , LRG_455:g.9494C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.531+112C>T MANE Select	ENSP00000322832.6:n.531+112C>T
ENST00000322048.11:c.531+112C>T	ENSP00000322832.5:n.531+112C>T
ENST00000586153.1:c.178-273C>T	ENSP00000464699.1:n.178-273C>T
ENST00000586336.5:n.630+112C>T
ENST00000586504.5:c.311+112C>T
ENST00000587377.5:c.544+112C>T	ENSP00000468343.1:n.544+112C>T
ENST00000587711.5:c.216+112C>T	ENSP00000467459.1:n.216+112C>T
ENST00000587843.5:c.*269+112C>T	ENSP00000465970.1:n.*269+112C>T
ENST00000588201.5:c.*522+112C>T	ENSP00000466529.1:n.*522+112C>T
ENST00000589543.5:n.488+112C>T
ENST00000591292.5:n.1860+112C>T
ENST00000591392.5:c.459+112C>T	ENSP00000467509.1:n.459+112C>T
ENST00000592019.1:c.77-642C>T
NM_024589.2:c.531+112C>T , LRG_455t1:c.531+112C>T	NP_078865.1:n.531+112C>T
NR_046480.1:n.855+112C>T
XM_006720947.2:c.531+112C>T	XP_006721010.1:n.531+112C>T
XM_006720948.2:c.261+112C>T	XP_006721011.1:n.261+112C>T
XM_006720947.4:c.531+112C>T	XP_006721010.1:n.531+112C>T
XM_006720948.4:c.261+112C>T	XP_006721011.1:n.261+112C>T
NM_024589.3:c.531+112C>T MANE Select	NP_078865.1:n.531+112C>T
NR_046480.2:n.538+112C>T