Canonical Allele Identifier: CA277135845

Gene: ROGDI

Linked Data

• dbSNP Id: rs147170560
• gnomAD v2: 16-4847966-G-A
• gnomAD v3: 16-4797965-G-A
• gnomAD v4: 16-4797965-G-A
• MyVariant Identifiers: chr16:g.4847966G>A (hg19) ; chr16:g.4797965G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4797965G>A , CM000678.2:g.4797965G>A	GRCh38
NC_000016.9:g.4847966G>A , CM000678.1:g.4847966G>A	GRCh37
NC_000016.8:g.4787967G>A	NCBI36
NG_032174.1:g.9986C>T , LRG_455:g.9986C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.668C>T MANE Select	ENSP00000322832.6:p.Ala223Val
ENST00000322048.11:c.668C>T	ENSP00000322832.5:p.Ala223Val
ENST00000586153.1:c.314C>T	ENSP00000464699.1:p.Ala105Val
ENST00000586336.5:n.767C>T
ENST00000586504.5:c.425+106C>T
ENST00000587377.5:c.681C>T	ENSP00000468343.1:p.Arg227=
ENST00000587711.5:c.353C>T	ENSP00000467459.1:p.Ala118Val
ENST00000587843.5:c.*406C>T	ENSP00000465970.1:n.*406C>T
ENST00000588201.5:c.*659C>T	ENSP00000466529.1:n.*659C>T
ENST00000589543.5:n.625C>T
ENST00000591292.5:n.1997C>T
ENST00000591392.5:c.596C>T	ENSP00000467509.1:p.Ala199Val
ENST00000592019.1:c.77-150C>T
NM_024589.2:c.668C>T , LRG_455t1:c.668C>T	NP_078865.1:p.Ala223Val
NR_046480.1:n.992C>T
XM_006720947.2:c.668C>T	XP_006721010.1:p.Ala223Val
XM_006720948.2:c.398C>T	XP_006721011.1:p.Ala133Val
XM_006720947.4:c.668C>T	XP_006721010.1:p.Ala223Val
XM_006720948.4:c.398C>T	XP_006721011.1:p.Ala133Val
NM_024589.3:c.668C>T MANE Select	NP_078865.1:p.Ala223Val
NR_046480.2:n.675C>T