Canonical Allele Identifier: CA394649615

Gene: ROGDI

Linked Data

• gnomAD v4: 16-4797975-C-G
• MyVariant Identifiers: chr16:g.4847976C>G (hg19) ; chr16:g.4797975C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4797975C>G , CM000678.2:g.4797975C>G	GRCh38
NC_000016.9:g.4847976C>G , CM000678.1:g.4847976C>G	GRCh37
NC_000016.8:g.4787977C>G	NCBI36
NG_032174.1:g.9976G>C , LRG_455:g.9976G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.658G>C MANE Select	ENSP00000322832.6:p.Ala220Pro
ENST00000322048.11:c.658G>C	ENSP00000322832.5:p.Ala220Pro
ENST00000586153.1:c.304G>C	ENSP00000464699.1:p.Ala102Pro
ENST00000586336.5:n.757G>C
ENST00000586504.5:c.425+96G>C
ENST00000587377.5:c.671G>C	ENSP00000468343.1:p.Ser224Thr
ENST00000587711.5:c.343G>C	ENSP00000467459.1:p.Ala115Pro
ENST00000587843.5:c.*396G>C	ENSP00000465970.1:n.*396G>C
ENST00000588201.5:c.*649G>C	ENSP00000466529.1:n.*649G>C
ENST00000589543.5:n.615G>C
ENST00000591292.5:n.1987G>C
ENST00000591392.5:c.586G>C	ENSP00000467509.1:p.Ala196Pro
ENST00000592019.1:c.77-160G>C
NM_024589.2:c.658G>C , LRG_455t1:c.658G>C	NP_078865.1:p.Ala220Pro
NR_046480.1:n.982G>C
XM_006720947.2:c.658G>C	XP_006721010.1:p.Ala220Pro
XM_006720948.2:c.388G>C	XP_006721011.1:p.Ala130Pro
XM_006720947.4:c.658G>C	XP_006721010.1:p.Ala220Pro
XM_006720948.4:c.388G>C	XP_006721011.1:p.Ala130Pro
NM_024589.3:c.658G>C MANE Select	NP_078865.1:p.Ala220Pro
NR_046480.2:n.665G>C