Canonical Allele Identifier: CA7882554

Gene: ROGDI

Linked Data

• ClinVar Variation Id: 2187530
• ClinVar RCV Id: RCV002615834
• dbSNP Id: rs767037070
• ExAC: 16:4847957 T / C
• gnomAD v2: 16-4847957-T-C
• gnomAD v3: 16-4797956-T-C
• gnomAD v4: 16-4797956-T-C
• MyVariant Identifiers: chr16:g.4847957T>C (hg19) ; chr16:g.4797956T>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.677A>G MANE Select	ENSP00000322832.6:p.His226Arg
ENST00000322048.11:c.677A>G	ENSP00000322832.5:p.His226Arg
ENST00000586153.1:c.323A>G	ENSP00000464699.1:p.His108Arg
ENST00000586336.5:n.776A>G
ENST00000586504.5:c.426-116A>G
ENST00000587377.5:c.690A>G	ENSP00000468343.1:p.Ala230=
ENST00000587711.5:c.362A>G	ENSP00000467459.1:p.His121Arg
ENST00000587843.5:c.*415A>G	ENSP00000465970.1:n.*415A>G
ENST00000588201.5:c.*668A>G	ENSP00000466529.1:n.*668A>G
ENST00000589543.5:n.634A>G
ENST00000591292.5:n.2006A>G
ENST00000591392.5:c.605A>G	ENSP00000467509.1:p.His202Arg
ENST00000592019.1:c.77-141A>G
NM_024589.2:c.677A>G , LRG_455t1:c.677A>G	NP_078865.1:p.His226Arg
NR_046480.1:n.1001A>G
XM_006720947.2:c.677A>G	XP_006721010.1:p.His226Arg
XM_006720948.2:c.407A>G	XP_006721011.1:p.His136Arg
XM_006720947.4:c.677A>G	XP_006721010.1:p.His226Arg
XM_006720948.4:c.407A>G	XP_006721011.1:p.His136Arg
NM_024589.3:c.677A>G MANE Select	NP_078865.1:p.His226Arg
NR_046480.2:n.684A>G