Canonical Allele Identifier: CA394653562

Gene: ROGDI

Linked Data

• MyVariant Identifiers: chr16:g.4849762A>C (hg19) ; chr16:g.4799761A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4799761A>C , CM000678.2:g.4799761A>C	GRCh38
NC_000016.9:g.4849762A>C , CM000678.1:g.4849762A>C	GRCh37
NC_000016.8:g.4789763A>C	NCBI36
NG_032174.1:g.8190T>G , LRG_455:g.8190T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.357T>G MANE Select	ENSP00000322832.6:p.His119Gln
ENST00000322048.11:c.357T>G	ENSP00000322832.5:p.His119Gln
ENST00000585653.1:n.489T>G
ENST00000586153.1:c.102T>G	ENSP00000464699.1:p.His34Gln
ENST00000586336.5:n.456T>G
ENST00000586504.5:c.137T>G
ENST00000587377.5:c.357T>G	ENSP00000468343.1:p.His119Gln
ENST00000587711.5:c.118-1094T>G	ENSP00000467459.1:n.118-1094T>G
ENST00000587843.5:c.*95T>G	ENSP00000465970.1:n.*95T>G
ENST00000588201.5:c.*214T>G	ENSP00000466529.1:n.*214T>G
ENST00000589543.5:n.314T>G
ENST00000591292.5:n.1686T>G
ENST00000591392.5:c.285T>G	ENSP00000467509.1:p.His95Gln
ENST00000592019.1:c.76T>G
NM_024589.2:c.357T>G , LRG_455t1:c.357T>G	NP_078865.1:p.His119Gln
NR_046480.1:n.681T>G
XM_006720947.2:c.357T>G	XP_006721010.1:p.His119Gln
XM_006720948.2:c.87T>G	XP_006721011.1:p.His29Gln
XM_006720947.4:c.357T>G	XP_006721010.1:p.His119Gln
XM_006720948.4:c.87T>G	XP_006721011.1:p.His29Gln
NM_024589.3:c.357T>G MANE Select	NP_078865.1:p.His119Gln
NR_046480.2:n.364T>G