Canonical Allele Identifier: CA7882624

Gene: ROGDI

Linked Data

• dbSNP Id: rs752188428
• ExAC: 16:4848131 G / C
• gnomAD v2: 16-4848131-G-C
• gnomAD v4: 16-4798130-G-C
• MyVariant Identifiers: chr16:g.4848131G>C (hg19) ; chr16:g.4798130G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4798130G>C , CM000678.2:g.4798130G>C	GRCh38
NC_000016.9:g.4848131G>C , CM000678.1:g.4848131G>C	GRCh37
NC_000016.8:g.4788132G>C	NCBI36
NG_032174.1:g.9821C>G , LRG_455:g.9821C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.586C>G MANE Select	ENSP00000322832.6:p.Leu196Val
ENST00000322048.11:c.586C>G	ENSP00000322832.5:p.Leu196Val
ENST00000586153.1:c.232C>G	ENSP00000464699.1:p.Leu78Val
ENST00000586336.5:n.685C>G
ENST00000586504.5:c.366C>G
ENST00000587377.5:c.599C>G	ENSP00000468343.1:p.Pro200Arg
ENST00000587711.5:c.271C>G	ENSP00000467459.1:p.Leu91Val
ENST00000587843.5:c.*324C>G	ENSP00000465970.1:n.*324C>G
ENST00000588201.5:c.*577C>G	ENSP00000466529.1:n.*577C>G
ENST00000589543.5:n.543C>G
ENST00000591292.5:n.1915C>G
ENST00000591392.5:c.514C>G	ENSP00000467509.1:p.Leu172Val
ENST00000592019.1:c.77-315C>G
NM_024589.2:c.586C>G , LRG_455t1:c.586C>G	NP_078865.1:p.Leu196Val
NR_046480.1:n.910C>G
XM_006720947.2:c.586C>G	XP_006721010.1:p.Leu196Val
XM_006720948.2:c.316C>G	XP_006721011.1:p.Leu106Val
XM_006720947.4:c.586C>G	XP_006721010.1:p.Leu196Val
XM_006720948.4:c.316C>G	XP_006721011.1:p.Leu106Val
NM_024589.3:c.586C>G MANE Select	NP_078865.1:p.Leu196Val
NR_046480.2:n.593C>G