Canonical Allele Identifier: CA394649885

Gene: ROGDI

Linked Data

• ClinVar Variation Id: 2195850
• ClinVar RCV Id: RCV002628992
• gnomAD v4: 16-4798079-A-C
• MyVariant Identifiers: chr16:g.4848080A>C (hg19) ; chr16:g.4798079A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4798079A>C , CM000678.2:g.4798079A>C	GRCh38
NC_000016.9:g.4848080A>C , CM000678.1:g.4848080A>C	GRCh37
NC_000016.8:g.4788081A>C	NCBI36
NG_032174.1:g.9872T>G , LRG_455:g.9872T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.637T>G MANE Select	ENSP00000322832.6:p.Ser213Ala
ENST00000322048.11:c.637T>G	ENSP00000322832.5:p.Ser213Ala
ENST00000586153.1:c.283T>G	ENSP00000464699.1:p.Ser95Ala
ENST00000586336.5:n.736T>G
ENST00000586504.5:c.417T>G
ENST00000587377.5:c.650T>G	ENSP00000468343.1:p.Leu217Arg
ENST00000587711.5:c.322T>G	ENSP00000467459.1:p.Ser108Ala
ENST00000587843.5:c.*375T>G	ENSP00000465970.1:n.*375T>G
ENST00000588201.5:c.*628T>G	ENSP00000466529.1:n.*628T>G
ENST00000589543.5:n.594T>G
ENST00000591292.5:n.1966T>G
ENST00000591392.5:c.565T>G	ENSP00000467509.1:p.Ser189Ala
ENST00000592019.1:c.77-264T>G
NM_024589.2:c.637T>G , LRG_455t1:c.637T>G	NP_078865.1:p.Ser213Ala
NR_046480.1:n.961T>G
XM_006720947.2:c.637T>G	XP_006721010.1:p.Ser213Ala
XM_006720948.2:c.367T>G	XP_006721011.1:p.Ser123Ala
XM_006720947.4:c.637T>G	XP_006721010.1:p.Ser213Ala
XM_006720948.4:c.367T>G	XP_006721011.1:p.Ser123Ala
NM_024589.3:c.637T>G MANE Select	NP_078865.1:p.Ser213Ala
NR_046480.2:n.644T>G