Canonical Allele Identifier: CA394649705

Gene: ROGDI

Linked Data

• gnomAD v4: 16-4797985-G-T
• MyVariant Identifiers: chr16:g.4847986G>T (hg19) ; chr16:g.4797985G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4797985G>T , CM000678.2:g.4797985G>T	GRCh38
NC_000016.9:g.4847986G>T , CM000678.1:g.4847986G>T	GRCh37
NC_000016.8:g.4787987G>T	NCBI36
NG_032174.1:g.9966C>A , LRG_455:g.9966C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.648C>A MANE Select	ENSP00000322832.6:p.Asn216Lys
ENST00000322048.11:c.648C>A	ENSP00000322832.5:p.Asn216Lys
ENST00000586153.1:c.294C>A	ENSP00000464699.1:p.Asn98Lys
ENST00000586336.5:n.747C>A
ENST00000586504.5:c.425+86C>A
ENST00000587377.5:c.661C>A	ENSP00000468343.1:p.Leu221Ile
ENST00000587711.5:c.333C>A	ENSP00000467459.1:p.Asn111Lys
ENST00000587843.5:c.*386C>A	ENSP00000465970.1:n.*386C>A
ENST00000588201.5:c.*639C>A	ENSP00000466529.1:n.*639C>A
ENST00000589543.5:n.605C>A
ENST00000591292.5:n.1977C>A
ENST00000591392.5:c.576C>A	ENSP00000467509.1:p.Asn192Lys
ENST00000592019.1:c.77-170C>A
NM_024589.2:c.648C>A , LRG_455t1:c.648C>A	NP_078865.1:p.Asn216Lys
NR_046480.1:n.972C>A
XM_006720947.2:c.648C>A	XP_006721010.1:p.Asn216Lys
XM_006720948.2:c.378C>A	XP_006721011.1:p.Asn126Lys
XM_006720947.4:c.648C>A	XP_006721010.1:p.Asn216Lys
XM_006720948.4:c.378C>A	XP_006721011.1:p.Asn126Lys
NM_024589.3:c.648C>A MANE Select	NP_078865.1:p.Asn216Lys
NR_046480.2:n.655C>A