Canonical Allele Identifier: CA394649446

Gene: ROGDI

Linked Data

• dbSNP Id: rs1253024810
• gnomAD v3: 16-4797953-C-A
• gnomAD v4: 16-4797953-C-A
• MyVariant Identifiers: chr16:g.4847954C>A (hg19) ; chr16:g.4797953C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4797953C>A , CM000678.2:g.4797953C>A	GRCh38
NC_000016.9:g.4847954C>A , CM000678.1:g.4847954C>A	GRCh37
NC_000016.8:g.4787955C>A	NCBI36
NG_032174.1:g.9998G>T , LRG_455:g.9998G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.680G>T MANE Select	ENSP00000322832.6:p.Ser227Ile
ENST00000322048.11:c.680G>T	ENSP00000322832.5:p.Ser227Ile
ENST00000586153.1:c.326G>T	ENSP00000464699.1:p.Ser109Ile
ENST00000586336.5:n.779G>T
ENST00000586504.5:c.426-113G>T
ENST00000587377.5:c.693G>T	ENSP00000468343.1:p.Ter231Tyr
ENST00000587711.5:c.365G>T	ENSP00000467459.1:p.Ser122Ile
ENST00000587843.5:c.*418G>T	ENSP00000465970.1:n.*418G>T
ENST00000588201.5:c.*671G>T	ENSP00000466529.1:n.*671G>T
ENST00000589543.5:n.637G>T
ENST00000591292.5:n.2009G>T
ENST00000591392.5:c.608G>T	ENSP00000467509.1:p.Ser203Ile
ENST00000592019.1:c.77-138G>T
NM_024589.2:c.680G>T , LRG_455t1:c.680G>T	NP_078865.1:p.Ser227Ile
NR_046480.1:n.1004G>T
XM_006720947.2:c.680G>T	XP_006721010.1:p.Ser227Ile
XM_006720948.2:c.410G>T	XP_006721011.1:p.Ser137Ile
XM_006720947.4:c.680G>T	XP_006721010.1:p.Ser227Ile
XM_006720948.4:c.410G>T	XP_006721011.1:p.Ser137Ile
NM_024589.3:c.680G>T MANE Select	NP_078865.1:p.Ser227Ile
NR_046480.2:n.687G>T