Canonical Allele Identifier: CA7882768

Gene: ROGDI

Linked Data

• ClinVar Variation Id: 461609
• ClinVar RCV Id: RCV000527819
• dbSNP Id: rs771509465
• ExAC: 16:4849775 T / C
• gnomAD v2: 16-4849775-T-C
• gnomAD v3: 16-4799774-T-C
• gnomAD v4: 16-4799774-T-C
• MyVariant Identifiers: chr16:g.4849775T>C (hg19) ; chr16:g.4799774T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4799774T>C , CM000678.2:g.4799774T>C	GRCh38
NC_000016.9:g.4849775T>C , CM000678.1:g.4849775T>C	GRCh37
NC_000016.8:g.4789776T>C	NCBI36
NG_032174.1:g.8177A>G , LRG_455:g.8177A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.344A>G MANE Select	ENSP00000322832.6:p.Asp115Gly
ENST00000322048.11:c.344A>G	ENSP00000322832.5:p.Asp115Gly
ENST00000585653.1:n.476A>G
ENST00000586153.1:c.89A>G	ENSP00000464699.1:p.Asp30Gly
ENST00000586336.5:n.443A>G
ENST00000586504.5:c.124A>G
ENST00000587377.5:c.344A>G	ENSP00000468343.1:p.Asp115Gly
ENST00000587711.5:c.118-1107A>G	ENSP00000467459.1:n.118-1107A>G
ENST00000587843.5:c.*82A>G	ENSP00000465970.1:n.*82A>G
ENST00000588201.5:c.*201A>G	ENSP00000466529.1:n.*201A>G
ENST00000589543.5:n.301A>G
ENST00000591292.5:n.1673A>G
ENST00000591392.5:c.272A>G	ENSP00000467509.1:p.Asp91Gly
ENST00000592019.1:c.63A>G
NM_024589.2:c.344A>G , LRG_455t1:c.344A>G	NP_078865.1:p.Asp115Gly
NR_046480.1:n.668A>G
XM_006720947.2:c.344A>G	XP_006721010.1:p.Asp115Gly
XM_006720948.2:c.74A>G	XP_006721011.1:p.Asp25Gly
XM_006720947.4:c.344A>G	XP_006721010.1:p.Asp115Gly
XM_006720948.4:c.74A>G	XP_006721011.1:p.Asp25Gly
NM_024589.3:c.344A>G MANE Select	NP_078865.1:p.Asp115Gly
NR_046480.2:n.351A>G