Canonical Allele Identifier: CA394649521

Gene: ROGDI

Linked Data

• gnomAD v4: 16-4797963-C-A
• MyVariant Identifiers: chr16:g.4847964C>A (hg19) ; chr16:g.4797963C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4797963C>A , CM000678.2:g.4797963C>A	GRCh38
NC_000016.9:g.4847964C>A , CM000678.1:g.4847964C>A	GRCh37
NC_000016.8:g.4787965C>A	NCBI36
NG_032174.1:g.9988G>T , LRG_455:g.9988G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.670G>T MANE Select	ENSP00000322832.6:p.Val224Leu
ENST00000322048.11:c.670G>T	ENSP00000322832.5:p.Val224Leu
ENST00000586153.1:c.316G>T	ENSP00000464699.1:p.Val106Leu
ENST00000586336.5:n.769G>T
ENST00000586504.5:c.425+108G>T
ENST00000587377.5:c.683G>T	ENSP00000468343.1:p.Gly228Val
ENST00000587711.5:c.355G>T	ENSP00000467459.1:p.Val119Leu
ENST00000587843.5:c.*408G>T	ENSP00000465970.1:n.*408G>T
ENST00000588201.5:c.*661G>T	ENSP00000466529.1:n.*661G>T
ENST00000589543.5:n.627G>T
ENST00000591292.5:n.1999G>T
ENST00000591392.5:c.598G>T	ENSP00000467509.1:p.Val200Leu
ENST00000592019.1:c.77-148G>T
NM_024589.2:c.670G>T , LRG_455t1:c.670G>T	NP_078865.1:p.Val224Leu
NR_046480.1:n.994G>T
XM_006720947.2:c.670G>T	XP_006721010.1:p.Val224Leu
XM_006720948.2:c.400G>T	XP_006721011.1:p.Val134Leu
XM_006720947.4:c.670G>T	XP_006721010.1:p.Val224Leu
XM_006720948.4:c.400G>T	XP_006721011.1:p.Val134Leu
NM_024589.3:c.670G>T MANE Select	NP_078865.1:p.Val224Leu
NR_046480.2:n.677G>T