Canonical Allele Identifier: CA394653265

Gene: ROGDI

Linked Data

• gnomAD v4: 16-4799713-C-G
• MyVariant Identifiers: chr16:g.4849714C>G (hg19) ; chr16:g.4799713C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4799713C>G , CM000678.2:g.4799713C>G	GRCh38
NC_000016.9:g.4849714C>G , CM000678.1:g.4849714C>G	GRCh37
NC_000016.8:g.4789715C>G	NCBI36
NG_032174.1:g.8238G>C , LRG_455:g.8238G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.405G>C MANE Select	ENSP00000322832.6:p.Gln135His
ENST00000322048.11:c.405G>C	ENSP00000322832.5:p.Gln135His
ENST00000585653.1:n.537G>C
ENST00000586153.1:c.150G>C	ENSP00000464699.1:p.Gln50His
ENST00000586336.5:n.504G>C
ENST00000586504.5:c.185G>C
ENST00000587377.5:c.405G>C	ENSP00000468343.1:p.Gln135His
ENST00000587711.5:c.118-1046G>C	ENSP00000467459.1:n.118-1046G>C
ENST00000587843.5:c.*143G>C	ENSP00000465970.1:n.*143G>C
ENST00000588201.5:c.*262G>C	ENSP00000466529.1:n.*262G>C
ENST00000589543.5:n.362G>C
ENST00000591292.5:n.1734G>C
ENST00000591392.5:c.333G>C	ENSP00000467509.1:p.Gln111His
ENST00000592019.1:c.76+48G>C
NM_024589.2:c.405G>C , LRG_455t1:c.405G>C	NP_078865.1:p.Gln135His
NR_046480.1:n.729G>C
XM_006720947.2:c.405G>C	XP_006721010.1:p.Gln135His
XM_006720948.2:c.135G>C	XP_006721011.1:p.Gln45His
XM_006720947.4:c.405G>C	XP_006721010.1:p.Gln135His
XM_006720948.4:c.135G>C	XP_006721011.1:p.Gln45His
NM_024589.3:c.405G>C MANE Select	NP_078865.1:p.Gln135His
NR_046480.2:n.412G>C