Canonical Allele Identifier: CA2631551757

Gene: ROGDI

Linked Data

• gnomAD v4: 16-4798503-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4798503C>A , CM000678.2:g.4798503C>A	GRCh38
NC_000016.9:g.4848504C>A , CM000678.1:g.4848504C>A	GRCh37
NC_000016.8:g.4788505C>A	NCBI36
NG_032174.1:g.9448G>T , LRG_455:g.9448G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.531+66G>T MANE Select	ENSP00000322832.6:n.531+66G>T
ENST00000322048.11:c.531+66G>T	ENSP00000322832.5:n.531+66G>T
ENST00000586153.1:c.178-319G>T	ENSP00000464699.1:n.178-319G>T
ENST00000586336.5:n.630+66G>T
ENST00000586504.5:c.311+66G>T
ENST00000587377.5:c.544+66G>T	ENSP00000468343.1:n.544+66G>T
ENST00000587711.5:c.216+66G>T	ENSP00000467459.1:n.216+66G>T
ENST00000587843.5:c.*269+66G>T	ENSP00000465970.1:n.*269+66G>T
ENST00000588201.5:c.*522+66G>T	ENSP00000466529.1:n.*522+66G>T
ENST00000589543.5:n.488+66G>T
ENST00000591292.5:n.1860+66G>T
ENST00000591392.5:c.459+66G>T	ENSP00000467509.1:n.459+66G>T
ENST00000592019.1:c.77-688G>T
NM_024589.2:c.531+66G>T , LRG_455t1:c.531+66G>T	NP_078865.1:n.531+66G>T
NR_046480.1:n.855+66G>T
XM_006720947.2:c.531+66G>T	XP_006721010.1:n.531+66G>T
XM_006720948.2:c.261+66G>T	XP_006721011.1:n.261+66G>T
XM_006720947.4:c.531+66G>T	XP_006721010.1:n.531+66G>T
XM_006720948.4:c.261+66G>T	XP_006721011.1:n.261+66G>T
NM_024589.3:c.531+66G>T MANE Select	NP_078865.1:n.531+66G>T
NR_046480.2:n.538+66G>T