Canonical Allele Identifier: CA493404942

Gene: ROGDI

Linked Data

• MyVariant Identifiers: chr16:g.4848165C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4798164C>A , CM000678.2:g.4798164C>A	GRCh38
NC_000016.9:g.4848165C>A , CM000678.1:g.4848165C>A	GRCh37
NC_000016.8:g.4788166C>A	NCBI36
NG_032174.1:g.9787G>T , LRG_455:g.9787G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.552G>T MANE Select	ENSP00000322832.6:p.Leu184=
ENST00000322048.11:c.552G>T	ENSP00000322832.5:p.Leu184=
ENST00000586153.1:c.198G>T	ENSP00000464699.1:p.Leu66=
ENST00000586336.5:n.651G>T
ENST00000586504.5:c.332G>T
ENST00000587377.5:c.565G>T	ENSP00000468343.1:p.Ala189Ser
ENST00000587711.5:c.237G>T	ENSP00000467459.1:p.Leu79=
ENST00000587843.5:c.*290G>T	ENSP00000465970.1:n.*290G>T
ENST00000588201.5:c.*543G>T	ENSP00000466529.1:n.*543G>T
ENST00000589543.5:n.509G>T
ENST00000591292.5:n.1881G>T
ENST00000591392.5:c.480G>T	ENSP00000467509.1:p.Leu160=
ENST00000592019.1:c.77-349G>T
NM_024589.2:c.552G>T , LRG_455t1:c.552G>T	NP_078865.1:p.Leu184=
NR_046480.1:n.876G>T
XM_006720947.2:c.552G>T	XP_006721010.1:p.Leu184=
XM_006720948.2:c.282G>T	XP_006721011.1:p.Leu94=
XM_006720947.4:c.552G>T	XP_006721010.1:p.Leu184=
XM_006720948.4:c.282G>T	XP_006721011.1:p.Leu94=
NM_024589.3:c.552G>T MANE Select	NP_078865.1:p.Leu184=
NR_046480.2:n.559G>T