Canonical Allele Identifier: CA394650279

Gene: ROGDI

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.593A>C MANE Select	ENSP00000322832.6:p.Lys198Thr
ENST00000322048.11:c.593A>C	ENSP00000322832.5:p.Lys198Thr
ENST00000586153.1:c.239A>C	ENSP00000464699.1:p.Lys80Thr
ENST00000586336.5:n.692A>C
ENST00000586504.5:c.373A>C
ENST00000587377.5:c.606A>C	ENSP00000468343.1:p.Gln202His
ENST00000587711.5:c.278A>C	ENSP00000467459.1:p.Lys93Thr
ENST00000587843.5:c.*331A>C	ENSP00000465970.1:n.*331A>C
ENST00000588201.5:c.*584A>C	ENSP00000466529.1:n.*584A>C
ENST00000589543.5:n.550A>C
ENST00000591292.5:n.1922A>C
ENST00000591392.5:c.521A>C	ENSP00000467509.1:p.Lys174Thr
ENST00000592019.1:c.77-308A>C
NM_024589.2:c.593A>C , LRG_455t1:c.593A>C	NP_078865.1:p.Lys198Thr
NR_046480.1:n.917A>C
XM_006720947.2:c.593A>C	XP_006721010.1:p.Lys198Thr
XM_006720948.2:c.323A>C	XP_006721011.1:p.Lys108Thr
XM_006720947.4:c.593A>C	XP_006721010.1:p.Lys198Thr
XM_006720948.4:c.323A>C	XP_006721011.1:p.Lys108Thr
NM_024589.3:c.593A>C MANE Select	NP_078865.1:p.Lys198Thr
NR_046480.2:n.600A>C