Canonical Allele Identifier: CA493320351

Gene: ROGDI

Linked Data

• gnomAD v4: 16-4799776-C-T
• MyVariant Identifiers: chr16:g.4849777C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4799776C>T , CM000678.2:g.4799776C>T	GRCh38
NC_000016.9:g.4849777C>T , CM000678.1:g.4849777C>T	GRCh37
NC_000016.8:g.4789778C>T	NCBI36
NG_032174.1:g.8175G>A , LRG_455:g.8175G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.342G>A MANE Select	ENSP00000322832.6:p.Gln114=
ENST00000322048.11:c.342G>A	ENSP00000322832.5:p.Gln114=
ENST00000585653.1:n.474G>A
ENST00000586153.1:c.87G>A	ENSP00000464699.1:p.Gln29=
ENST00000586336.5:n.441G>A
ENST00000586504.5:c.122G>A
ENST00000587377.5:c.342G>A	ENSP00000468343.1:p.Gln114=
ENST00000587711.5:c.118-1109G>A	ENSP00000467459.1:n.118-1109G>A
ENST00000587843.5:c.*80G>A	ENSP00000465970.1:n.*80G>A
ENST00000588201.5:c.*199G>A	ENSP00000466529.1:n.*199G>A
ENST00000589543.5:n.299G>A
ENST00000591292.5:n.1671G>A
ENST00000591392.5:c.270G>A	ENSP00000467509.1:p.Gln90=
ENST00000592019.1:c.61G>A
NM_024589.2:c.342G>A , LRG_455t1:c.342G>A	NP_078865.1:p.Gln114=
NR_046480.1:n.666G>A
XM_006720947.2:c.342G>A	XP_006721010.1:p.Gln114=
XM_006720948.2:c.72G>A	XP_006721011.1:p.Gln24=
XM_006720947.4:c.342G>A	XP_006721010.1:p.Gln114=
XM_006720948.4:c.72G>A	XP_006721011.1:p.Gln24=
NM_024589.3:c.342G>A MANE Select	NP_078865.1:p.Gln114=
NR_046480.2:n.349G>A