Canonical Allele Identifier: CA394649476

Gene: ROGDI

Linked Data

• gnomAD v4: 16-4797956-T-G
• MyVariant Identifiers: chr16:g.4847957T>G (hg19) ; chr16:g.4797956T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4797956T>G , CM000678.2:g.4797956T>G	GRCh38
NC_000016.9:g.4847957T>G , CM000678.1:g.4847957T>G	GRCh37
NC_000016.8:g.4787958T>G	NCBI36
NG_032174.1:g.9995A>C , LRG_455:g.9995A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.677A>C MANE Select	ENSP00000322832.6:p.His226Pro
ENST00000322048.11:c.677A>C	ENSP00000322832.5:p.His226Pro
ENST00000586153.1:c.323A>C	ENSP00000464699.1:p.His108Pro
ENST00000586336.5:n.776A>C
ENST00000586504.5:c.426-116A>C
ENST00000587377.5:c.690A>C	ENSP00000468343.1:p.Ala230=
ENST00000587711.5:c.362A>C	ENSP00000467459.1:p.His121Pro
ENST00000587843.5:c.*415A>C	ENSP00000465970.1:n.*415A>C
ENST00000588201.5:c.*668A>C	ENSP00000466529.1:n.*668A>C
ENST00000589543.5:n.634A>C
ENST00000591292.5:n.2006A>C
ENST00000591392.5:c.605A>C	ENSP00000467509.1:p.His202Pro
ENST00000592019.1:c.77-141A>C
NM_024589.2:c.677A>C , LRG_455t1:c.677A>C	NP_078865.1:p.His226Pro
NR_046480.1:n.1001A>C
XM_006720947.2:c.677A>C	XP_006721010.1:p.His226Pro
XM_006720948.2:c.407A>C	XP_006721011.1:p.His136Pro
XM_006720947.4:c.677A>C	XP_006721010.1:p.His226Pro
XM_006720948.4:c.407A>C	XP_006721011.1:p.His136Pro
NM_024589.3:c.677A>C MANE Select	NP_078865.1:p.His226Pro
NR_046480.2:n.684A>C