Canonical Allele Identifier: CA394649646

Gene: ROGDI

Linked Data

• gnomAD v4: 16-4797980-C-A
• MyVariant Identifiers: chr16:g.4847981C>A (hg19) ; chr16:g.4797980C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4797980C>A , CM000678.2:g.4797980C>A	GRCh38
NC_000016.9:g.4847981C>A , CM000678.1:g.4847981C>A	GRCh37
NC_000016.8:g.4787982C>A	NCBI36
NG_032174.1:g.9971G>T , LRG_455:g.9971G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.653G>T MANE Select	ENSP00000322832.6:p.Arg218Leu
ENST00000322048.11:c.653G>T	ENSP00000322832.5:p.Arg218Leu
ENST00000586153.1:c.299G>T	ENSP00000464699.1:p.Arg100Leu
ENST00000586336.5:n.752G>T
ENST00000586504.5:c.425+91G>T
ENST00000587377.5:c.666G>T	ENSP00000468343.1:p.Pro222=
ENST00000587711.5:c.338G>T	ENSP00000467459.1:p.Arg113Leu
ENST00000587843.5:c.*391G>T	ENSP00000465970.1:n.*391G>T
ENST00000588201.5:c.*644G>T	ENSP00000466529.1:n.*644G>T
ENST00000589543.5:n.610G>T
ENST00000591292.5:n.1982G>T
ENST00000591392.5:c.581G>T	ENSP00000467509.1:p.Arg194Leu
ENST00000592019.1:c.77-165G>T
NM_024589.2:c.653G>T , LRG_455t1:c.653G>T	NP_078865.1:p.Arg218Leu
NR_046480.1:n.977G>T
XM_006720947.2:c.653G>T	XP_006721010.1:p.Arg218Leu
XM_006720948.2:c.383G>T	XP_006721011.1:p.Arg128Leu
XM_006720947.4:c.653G>T	XP_006721010.1:p.Arg218Leu
XM_006720948.4:c.383G>T	XP_006721011.1:p.Arg128Leu
NM_024589.3:c.653G>T MANE Select	NP_078865.1:p.Arg218Leu
NR_046480.2:n.660G>T