Canonical Allele Identifier: CA394649565

Gene: ROGDI

Linked Data

• MyVariant Identifiers: chr16:g.4847972C>A (hg19) ; chr16:g.4797971C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4797971C>A , CM000678.2:g.4797971C>A	GRCh38
NC_000016.9:g.4847972C>A , CM000678.1:g.4847972C>A	GRCh37
NC_000016.8:g.4787973C>A	NCBI36
NG_032174.1:g.9980G>T , LRG_455:g.9980G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.662G>T MANE Select	ENSP00000322832.6:p.Gly221Val
ENST00000322048.11:c.662G>T	ENSP00000322832.5:p.Gly221Val
ENST00000586153.1:c.308G>T	ENSP00000464699.1:p.Gly103Val
ENST00000586336.5:n.761G>T
ENST00000586504.5:c.425+100G>T
ENST00000587377.5:c.675G>T	ENSP00000468343.1:p.Trp225Cys
ENST00000587711.5:c.347G>T	ENSP00000467459.1:p.Gly116Val
ENST00000587843.5:c.*400G>T	ENSP00000465970.1:n.*400G>T
ENST00000588201.5:c.*653G>T	ENSP00000466529.1:n.*653G>T
ENST00000589543.5:n.619G>T
ENST00000591292.5:n.1991G>T
ENST00000591392.5:c.590G>T	ENSP00000467509.1:p.Gly197Val
ENST00000592019.1:c.77-156G>T
NM_024589.2:c.662G>T , LRG_455t1:c.662G>T	NP_078865.1:p.Gly221Val
NR_046480.1:n.986G>T
XM_006720947.2:c.662G>T	XP_006721010.1:p.Gly221Val
XM_006720948.2:c.392G>T	XP_006721011.1:p.Gly131Val
XM_006720947.4:c.662G>T	XP_006721010.1:p.Gly221Val
XM_006720948.4:c.392G>T	XP_006721011.1:p.Gly131Val
NM_024589.3:c.662G>T MANE Select	NP_078865.1:p.Gly221Val
NR_046480.2:n.669G>T