Canonical Allele Identifier: CA394649628

Gene: ROGDI

Linked Data

• gnomAD v4: 16-4797978-G-A
• MyVariant Identifiers: chr16:g.4847979G>A (hg19) ; chr16:g.4797978G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4797978G>A , CM000678.2:g.4797978G>A	GRCh38
NC_000016.9:g.4847979G>A , CM000678.1:g.4847979G>A	GRCh37
NC_000016.8:g.4787980G>A	NCBI36
NG_032174.1:g.9973C>T , LRG_455:g.9973C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.655C>T MANE Select	ENSP00000322832.6:p.Pro219Ser
ENST00000322048.11:c.655C>T	ENSP00000322832.5:p.Pro219Ser
ENST00000586153.1:c.301C>T	ENSP00000464699.1:p.Pro101Ser
ENST00000586336.5:n.754C>T
ENST00000586504.5:c.425+93C>T
ENST00000587377.5:c.668C>T	ENSP00000468343.1:p.Pro223Leu
ENST00000587711.5:c.340C>T	ENSP00000467459.1:p.Pro114Ser
ENST00000587843.5:c.*393C>T	ENSP00000465970.1:n.*393C>T
ENST00000588201.5:c.*646C>T	ENSP00000466529.1:n.*646C>T
ENST00000589543.5:n.612C>T
ENST00000591292.5:n.1984C>T
ENST00000591392.5:c.583C>T	ENSP00000467509.1:p.Pro195Ser
ENST00000592019.1:c.77-163C>T
NM_024589.2:c.655C>T , LRG_455t1:c.655C>T	NP_078865.1:p.Pro219Ser
NR_046480.1:n.979C>T
XM_006720947.2:c.655C>T	XP_006721010.1:p.Pro219Ser
XM_006720948.2:c.385C>T	XP_006721011.1:p.Pro129Ser
XM_006720947.4:c.655C>T	XP_006721010.1:p.Pro219Ser
XM_006720948.4:c.385C>T	XP_006721011.1:p.Pro129Ser
NM_024589.3:c.655C>T MANE Select	NP_078865.1:p.Pro219Ser
NR_046480.2:n.662C>T