Canonical Allele Identifier: CA16615342

Gene: ROGDI

Linked Data

• ClinVar Variation Id: 410627
• ClinVar RCV Id: RCV000471198
• dbSNP Id: rs1060502981
• MyVariant Identifiers: chr16:g.4851588T>C (hg19) ; chr16:g.4801587T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4801587T>C , CM000678.2:g.4801587T>C	GRCh38
NC_000016.9:g.4851588T>C , CM000678.1:g.4851588T>C	GRCh37
NC_000016.8:g.4791589T>C	NCBI36
NG_032174.1:g.6364A>G , LRG_455:g.6364A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.118-2A>G MANE Select	ENSP00000322832.6:n.118-2A>G
ENST00000322048.11:c.118-2A>G	ENSP00000322832.5:n.118-2A>G
ENST00000585653.1:n.250-2A>G
ENST00000585871.1:n.427-2A>G
ENST00000586336.5:n.272-2A>G
ENST00000587377.5:c.118-2A>G	ENSP00000468343.1:n.118-2A>G
ENST00000587711.5:c.117+795A>G	ENSP00000467459.1:n.117+795A>G
ENST00000587843.5:c.118-2A>G	ENSP00000465970.1:n.118-2A>G
ENST00000588201.5:c.118-2A>G	ENSP00000466529.1:n.118-2A>G
ENST00000589543.5:n.73A>G
ENST00000590198.1:n.285-2A>G
ENST00000591292.5:n.576A>G
ENST00000591392.5:c.46-2A>G	ENSP00000467509.1:n.46-2A>G
NM_024589.2:c.118-2A>G , LRG_455t1:c.118-2A>G	NP_078865.1:n.118-2A>G
NR_046480.1:n.497-2A>G
XM_006720947.2:c.118-2A>G	XP_006721010.1:n.118-2A>G
XM_006720948.2:c.-98-2A>G	XP_006721011.1:n.-98-2A>G
XM_006720947.4:c.118-2A>G	XP_006721010.1:n.118-2A>G
XM_006720948.4:c.-98-2A>G	XP_006721011.1:n.-98-2A>G
NM_024589.3:c.118-2A>G MANE Select	NP_078865.1:n.118-2A>G
NR_046480.2:n.180-2A>G