Canonical Allele Identifier: CA394649489

Gene: ROGDI

Linked Data

• MyVariant Identifiers: chr16:g.4847960A>T (hg19) ; chr16:g.4797959A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4797959A>T , CM000678.2:g.4797959A>T	GRCh38
NC_000016.9:g.4847960A>T , CM000678.1:g.4847960A>T	GRCh37
NC_000016.8:g.4787961A>T	NCBI36
NG_032174.1:g.9992T>A , LRG_455:g.9992T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.674T>A MANE Select	ENSP00000322832.6:p.Leu225Gln
ENST00000322048.11:c.674T>A	ENSP00000322832.5:p.Leu225Gln
ENST00000586153.1:c.320T>A	ENSP00000464699.1:p.Leu107Gln
ENST00000586336.5:n.773T>A
ENST00000586504.5:c.425+112T>A
ENST00000587377.5:c.687T>A	ENSP00000468343.1:p.Ala229=
ENST00000587711.5:c.359T>A	ENSP00000467459.1:p.Leu120Gln
ENST00000587843.5:c.*412T>A	ENSP00000465970.1:n.*412T>A
ENST00000588201.5:c.*665T>A	ENSP00000466529.1:n.*665T>A
ENST00000589543.5:n.631T>A
ENST00000591292.5:n.2003T>A
ENST00000591392.5:c.602T>A	ENSP00000467509.1:p.Leu201Gln
ENST00000592019.1:c.77-144T>A
NM_024589.2:c.674T>A , LRG_455t1:c.674T>A	NP_078865.1:p.Leu225Gln
NR_046480.1:n.998T>A
XM_006720947.2:c.674T>A	XP_006721010.1:p.Leu225Gln
XM_006720948.2:c.404T>A	XP_006721011.1:p.Leu135Gln
XM_006720947.4:c.674T>A	XP_006721010.1:p.Leu225Gln
XM_006720948.4:c.404T>A	XP_006721011.1:p.Leu135Gln
NM_024589.3:c.674T>A MANE Select	NP_078865.1:p.Leu225Gln
NR_046480.2:n.681T>A