Canonical Allele Identifier: CA493320307

Gene: ROGDI

Linked Data

• gnomAD v4: 16-4799692-G-A
• MyVariant Identifiers: chr16:g.4849693G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4799692G>A , CM000678.2:g.4799692G>A	GRCh38
NC_000016.9:g.4849693G>A , CM000678.1:g.4849693G>A	GRCh37
NC_000016.8:g.4789694G>A	NCBI36
NG_032174.1:g.8259C>T , LRG_455:g.8259C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.426C>T MANE Select	ENSP00000322832.6:p.Val142=
ENST00000322048.11:c.426C>T	ENSP00000322832.5:p.Val142=
ENST00000585653.1:n.558C>T
ENST00000586153.1:c.171C>T	ENSP00000464699.1:p.Val57=
ENST00000586336.5:n.525C>T
ENST00000586504.5:c.206C>T
ENST00000587377.5:c.423+3C>T	ENSP00000468343.1:n.423+3C>T
ENST00000587711.5:c.118-1025C>T	ENSP00000467459.1:n.118-1025C>T
ENST00000587843.5:c.*164C>T	ENSP00000465970.1:n.*164C>T
ENST00000588201.5:c.*283C>T	ENSP00000466529.1:n.*283C>T
ENST00000589543.5:n.383C>T
ENST00000591292.5:n.1755C>T
ENST00000591392.5:c.354C>T	ENSP00000467509.1:p.Val118=
ENST00000592019.1:c.76+69C>T
NM_024589.2:c.426C>T , LRG_455t1:c.426C>T	NP_078865.1:p.Val142=
NR_046480.1:n.750C>T
XM_006720947.2:c.426C>T	XP_006721010.1:p.Val142=
XM_006720948.2:c.156C>T	XP_006721011.1:p.Val52=
XM_006720947.4:c.426C>T	XP_006721010.1:p.Val142=
XM_006720948.4:c.156C>T	XP_006721011.1:p.Val52=
NM_024589.3:c.426C>T MANE Select	NP_078865.1:p.Val142=
NR_046480.2:n.433C>T