Canonical Allele Identifier: CA394650448

Gene: ROGDI

Linked Data

• MyVariant Identifiers: chr16:g.4848142A>C (hg19) ; chr16:g.4798141A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4798141A>C , CM000678.2:g.4798141A>C	GRCh38
NC_000016.9:g.4848142A>C , CM000678.1:g.4848142A>C	GRCh37
NC_000016.8:g.4788143A>C	NCBI36
NG_032174.1:g.9810T>G , LRG_455:g.9810T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.575T>G MANE Select	ENSP00000322832.6:p.Val192Gly
ENST00000322048.11:c.575T>G	ENSP00000322832.5:p.Val192Gly
ENST00000586153.1:c.221T>G	ENSP00000464699.1:p.Val74Gly
ENST00000586336.5:n.674T>G
ENST00000586504.5:c.355T>G
ENST00000587377.5:c.588T>G	ENSP00000468343.1:p.Arg196=
ENST00000587711.5:c.260T>G	ENSP00000467459.1:p.Val87Gly
ENST00000587843.5:c.*313T>G	ENSP00000465970.1:n.*313T>G
ENST00000588201.5:c.*566T>G	ENSP00000466529.1:n.*566T>G
ENST00000589543.5:n.532T>G
ENST00000591292.5:n.1904T>G
ENST00000591392.5:c.503T>G	ENSP00000467509.1:p.Val168Gly
ENST00000592019.1:c.77-326T>G
NM_024589.2:c.575T>G , LRG_455t1:c.575T>G	NP_078865.1:p.Val192Gly
NR_046480.1:n.899T>G
XM_006720947.2:c.575T>G	XP_006721010.1:p.Val192Gly
XM_006720948.2:c.305T>G	XP_006721011.1:p.Val102Gly
XM_006720947.4:c.575T>G	XP_006721010.1:p.Val192Gly
XM_006720948.4:c.305T>G	XP_006721011.1:p.Val102Gly
NM_024589.3:c.575T>G MANE Select	NP_078865.1:p.Val192Gly
NR_046480.2:n.582T>G