Canonical Allele Identifier: CA493320328

Gene: ROGDI

Linked Data

• gnomAD v4: 16-4799734-G-T
• MyVariant Identifiers: chr16:g.4849735G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4799734G>T , CM000678.2:g.4799734G>T	GRCh38
NC_000016.9:g.4849735G>T , CM000678.1:g.4849735G>T	GRCh37
NC_000016.8:g.4789736G>T	NCBI36
NG_032174.1:g.8217C>A , LRG_455:g.8217C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.384C>A MANE Select	ENSP00000322832.6:p.Thr128=
ENST00000322048.11:c.384C>A	ENSP00000322832.5:p.Thr128=
ENST00000585653.1:n.516C>A
ENST00000586153.1:c.129C>A	ENSP00000464699.1:p.Thr43=
ENST00000586336.5:n.483C>A
ENST00000586504.5:c.164C>A
ENST00000587377.5:c.384C>A	ENSP00000468343.1:p.Thr128=
ENST00000587711.5:c.118-1067C>A	ENSP00000467459.1:n.118-1067C>A
ENST00000587843.5:c.*122C>A	ENSP00000465970.1:n.*122C>A
ENST00000588201.5:c.*241C>A	ENSP00000466529.1:n.*241C>A
ENST00000589543.5:n.341C>A
ENST00000591292.5:n.1713C>A
ENST00000591392.5:c.312C>A	ENSP00000467509.1:p.Thr104=
ENST00000592019.1:c.76+27C>A
NM_024589.2:c.384C>A , LRG_455t1:c.384C>A	NP_078865.1:p.Thr128=
NR_046480.1:n.708C>A
XM_006720947.2:c.384C>A	XP_006721010.1:p.Thr128=
XM_006720948.2:c.114C>A	XP_006721011.1:p.Thr38=
XM_006720947.4:c.384C>A	XP_006721010.1:p.Thr128=
XM_006720948.4:c.114C>A	XP_006721011.1:p.Thr38=
NM_024589.3:c.384C>A MANE Select	NP_078865.1:p.Thr128=
NR_046480.2:n.391C>A