Canonical Allele Identifier: CA394650273

Gene: ROGDI

Linked Data

• MyVariant Identifiers: chr16:g.4848124T>A (hg19) ; chr16:g.4798123T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4798123T>A , CM000678.2:g.4798123T>A	GRCh38
NC_000016.9:g.4848124T>A , CM000678.1:g.4848124T>A	GRCh37
NC_000016.8:g.4788125T>A	NCBI36
NG_032174.1:g.9828A>T , LRG_455:g.9828A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.593A>T MANE Select	ENSP00000322832.6:p.Lys198Met
ENST00000322048.11:c.593A>T	ENSP00000322832.5:p.Lys198Met
ENST00000586153.1:c.239A>T	ENSP00000464699.1:p.Lys80Met
ENST00000586336.5:n.692A>T
ENST00000586504.5:c.373A>T
ENST00000587377.5:c.606A>T	ENSP00000468343.1:p.Gln202His
ENST00000587711.5:c.278A>T	ENSP00000467459.1:p.Lys93Met
ENST00000587843.5:c.*331A>T	ENSP00000465970.1:n.*331A>T
ENST00000588201.5:c.*584A>T	ENSP00000466529.1:n.*584A>T
ENST00000589543.5:n.550A>T
ENST00000591292.5:n.1922A>T
ENST00000591392.5:c.521A>T	ENSP00000467509.1:p.Lys174Met
ENST00000592019.1:c.77-308A>T
NM_024589.2:c.593A>T , LRG_455t1:c.593A>T	NP_078865.1:p.Lys198Met
NR_046480.1:n.917A>T
XM_006720947.2:c.593A>T	XP_006721010.1:p.Lys198Met
XM_006720948.2:c.323A>T	XP_006721011.1:p.Lys108Met
XM_006720947.4:c.593A>T	XP_006721010.1:p.Lys198Met
XM_006720948.4:c.323A>T	XP_006721011.1:p.Lys108Met
NM_024589.3:c.593A>T MANE Select	NP_078865.1:p.Lys198Met
NR_046480.2:n.600A>T