Canonical Allele Identifier: CA2631553322

Gene: ROGDI

Linked Data

• gnomAD v4: 16-4799828-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4799828C>A , CM000678.2:g.4799828C>A	GRCh38
NC_000016.9:g.4849829C>A , CM000678.1:g.4849829C>A	GRCh37
NC_000016.8:g.4789830C>A	NCBI36
NG_032174.1:g.8123G>T , LRG_455:g.8123G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.337-47G>T MANE Select	ENSP00000322832.6:n.337-47G>T
ENST00000322048.11:c.337-47G>T	ENSP00000322832.5:n.337-47G>T
ENST00000585653.1:n.469-47G>T
ENST00000586153.1:c.82-47G>T	ENSP00000464699.1:n.82-47G>T
ENST00000586336.5:n.436-47G>T
ENST00000586504.5:c.117-47G>T
ENST00000587377.5:c.337-47G>T	ENSP00000468343.1:n.337-47G>T
ENST00000587711.5:c.118-1161G>T	ENSP00000467459.1:n.118-1161G>T
ENST00000587843.5:c.*75-47G>T	ENSP00000465970.1:n.*75-47G>T
ENST00000588201.5:c.*194-47G>T	ENSP00000466529.1:n.*194-47G>T
ENST00000589543.5:n.294-47G>T
ENST00000591292.5:n.1666-47G>T
ENST00000591392.5:c.265-47G>T	ENSP00000467509.1:n.265-47G>T
ENST00000592019.1:c.56-47G>T
NM_024589.2:c.337-47G>T , LRG_455t1:c.337-47G>T	NP_078865.1:n.337-47G>T
NR_046480.1:n.661-47G>T
XM_006720947.2:c.337-47G>T	XP_006721010.1:n.337-47G>T
XM_006720948.2:c.67-47G>T	XP_006721011.1:n.67-47G>T
XM_006720947.4:c.337-47G>T	XP_006721010.1:n.337-47G>T
XM_006720948.4:c.67-47G>T	XP_006721011.1:n.67-47G>T
NM_024589.3:c.337-47G>T MANE Select	NP_078865.1:n.337-47G>T
NR_046480.2:n.344-47G>T