Canonical Allele Identifier: CA493404709

Gene: ROGDI

Linked Data

• gnomAD v4: 16-4797960-G-A
• MyVariant Identifiers: chr16:g.4847961G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4797960G>A , CM000678.2:g.4797960G>A	GRCh38
NC_000016.9:g.4847961G>A , CM000678.1:g.4847961G>A	GRCh37
NC_000016.8:g.4787962G>A	NCBI36
NG_032174.1:g.9991C>T , LRG_455:g.9991C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.673C>T MANE Select	ENSP00000322832.6:p.Leu225=
ENST00000322048.11:c.673C>T	ENSP00000322832.5:p.Leu225=
ENST00000586153.1:c.319C>T	ENSP00000464699.1:p.Leu107=
ENST00000586336.5:n.772C>T
ENST00000586504.5:c.425+111C>T
ENST00000587377.5:c.686C>T	ENSP00000468343.1:p.Ala229Val
ENST00000587711.5:c.358C>T	ENSP00000467459.1:p.Leu120=
ENST00000587843.5:c.*411C>T	ENSP00000465970.1:n.*411C>T
ENST00000588201.5:c.*664C>T	ENSP00000466529.1:n.*664C>T
ENST00000589543.5:n.630C>T
ENST00000591292.5:n.2002C>T
ENST00000591392.5:c.601C>T	ENSP00000467509.1:p.Leu201=
ENST00000592019.1:c.77-145C>T
NM_024589.2:c.673C>T , LRG_455t1:c.673C>T	NP_078865.1:p.Leu225=
NR_046480.1:n.997C>T
XM_006720947.2:c.673C>T	XP_006721010.1:p.Leu225=
XM_006720948.2:c.403C>T	XP_006721011.1:p.Leu135=
XM_006720947.4:c.673C>T	XP_006721010.1:p.Leu225=
XM_006720948.4:c.403C>T	XP_006721011.1:p.Leu135=
NM_024589.3:c.673C>T MANE Select	NP_078865.1:p.Leu225=
NR_046480.2:n.680C>T