Canonical Allele Identifier: CA394650465

Gene: ROGDI

Linked Data

• ClinVar Variation Id: 1375358
• ClinVar RCV Id: RCV001902416
• dbSNP Id: rs965246266
• gnomAD v2: 16-4848145-T-G
• gnomAD v3: 16-4798144-T-G
• gnomAD v4: 16-4798144-T-G
• MyVariant Identifiers: chr16:g.4848145T>G (hg19) ; chr16:g.4798144T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4798144T>G , CM000678.2:g.4798144T>G	GRCh38
NC_000016.9:g.4848145T>G , CM000678.1:g.4848145T>G	GRCh37
NC_000016.8:g.4788146T>G	NCBI36
NG_032174.1:g.9807A>C , LRG_455:g.9807A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.572A>C MANE Select	ENSP00000322832.6:p.Asn191Thr
ENST00000322048.11:c.572A>C	ENSP00000322832.5:p.Asn191Thr
ENST00000586153.1:c.218A>C	ENSP00000464699.1:p.Asn73Thr
ENST00000586336.5:n.671A>C
ENST00000586504.5:c.352A>C
ENST00000587377.5:c.585A>C	ENSP00000468343.1:p.Gln195His
ENST00000587711.5:c.257A>C	ENSP00000467459.1:p.Asn86Thr
ENST00000587843.5:c.*310A>C	ENSP00000465970.1:n.*310A>C
ENST00000588201.5:c.*563A>C	ENSP00000466529.1:n.*563A>C
ENST00000589543.5:n.529A>C
ENST00000591292.5:n.1901A>C
ENST00000591392.5:c.500A>C	ENSP00000467509.1:p.Asn167Thr
ENST00000592019.1:c.77-329A>C
NM_024589.2:c.572A>C , LRG_455t1:c.572A>C	NP_078865.1:p.Asn191Thr
NR_046480.1:n.896A>C
XM_006720947.2:c.572A>C	XP_006721010.1:p.Asn191Thr
XM_006720948.2:c.302A>C	XP_006721011.1:p.Asn101Thr
XM_006720947.4:c.572A>C	XP_006721010.1:p.Asn191Thr
XM_006720948.4:c.302A>C	XP_006721011.1:p.Asn101Thr
NM_024589.3:c.572A>C MANE Select	NP_078865.1:p.Asn191Thr
NR_046480.2:n.579A>C