Canonical Allele Identifier: CA129777

Gene: ROGDI

Linked Data

• ClinVar Variation Id: 31228
• ClinVar RCV Id: RCV000024227
• dbSNP Id: rs786205119
• gnomAD v3: 16-4798186-T-A
• gnomAD v4: 16-4798186-T-A
• MyVariant Identifiers: chr16:g.4848187T>A (hg19) ; chr16:g.4798186T>A (hg38)
• PubMed: PMID:22424600

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4798186T>A , CM000678.2:g.4798186T>A	GRCh38
NC_000016.9:g.4848187T>A , CM000678.1:g.4848187T>A	GRCh37
NC_000016.8:g.4788188T>A	NCBI36
NG_032174.1:g.9765A>T , LRG_455:g.9765A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000322048.12:c.532-2A>T MANE Select	ENSP00000322832.6:n.532-2A>T
ENST00000322048.11:c.532-2A>T	ENSP00000322832.5:n.532-2A>T
ENST00000586153.1:c.178-2A>T	ENSP00000464699.1:n.178-2A>T
ENST00000586336.5:n.631-2A>T
ENST00000586504.5:c.312-2A>T
ENST00000587377.5:c.545-2A>T	ENSP00000468343.1:n.545-2A>T
ENST00000587711.5:c.217-2A>T	ENSP00000467459.1:n.217-2A>T
ENST00000587843.5:c.*270-2A>T	ENSP00000465970.1:n.*270-2A>T
ENST00000588201.5:c.*523-2A>T	ENSP00000466529.1:n.*523-2A>T
ENST00000589543.5:n.489-2A>T
ENST00000591292.5:n.1861-2A>T
ENST00000591392.5:c.460-2A>T	ENSP00000467509.1:n.460-2A>T
ENST00000592019.1:c.77-371A>T
NM_024589.2:c.532-2A>T , LRG_455t1:c.532-2A>T	NP_078865.1:n.532-2A>T
NR_046480.1:n.856-2A>T
XM_006720947.2:c.532-2A>T	XP_006721010.1:n.532-2A>T
XM_006720948.2:c.262-2A>T	XP_006721011.1:n.262-2A>T
XM_006720947.4:c.532-2A>T	XP_006721010.1:n.532-2A>T
XM_006720948.4:c.262-2A>T	XP_006721011.1:n.262-2A>T
NM_024589.3:c.532-2A>T MANE Select	NP_078865.1:n.532-2A>T
NR_046480.2:n.539-2A>T