Canonical Allele Identifier: CA394649724

Gene: ROGDI

Linked Data

• MyVariant Identifiers: chr16:g.4847988T>G (hg19) ; chr16:g.4797987T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4797987T>G , CM000678.2:g.4797987T>G	GRCh38
NC_000016.9:g.4847988T>G , CM000678.1:g.4847988T>G	GRCh37
NC_000016.8:g.4787989T>G	NCBI36
NG_032174.1:g.9964A>C , LRG_455:g.9964A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.646A>C MANE Select	ENSP00000322832.6:p.Asn216His
ENST00000322048.11:c.646A>C	ENSP00000322832.5:p.Asn216His
ENST00000586153.1:c.292A>C	ENSP00000464699.1:p.Asn98His
ENST00000586336.5:n.745A>C
ENST00000586504.5:c.425+84A>C
ENST00000587377.5:c.659A>C	ENSP00000468343.1:p.Glu220Ala
ENST00000587711.5:c.331A>C	ENSP00000467459.1:p.Asn111His
ENST00000587843.5:c.*384A>C	ENSP00000465970.1:n.*384A>C
ENST00000588201.5:c.*637A>C	ENSP00000466529.1:n.*637A>C
ENST00000589543.5:n.603A>C
ENST00000591292.5:n.1975A>C
ENST00000591392.5:c.574A>C	ENSP00000467509.1:p.Asn192His
ENST00000592019.1:c.77-172A>C
NM_024589.2:c.646A>C , LRG_455t1:c.646A>C	NP_078865.1:p.Asn216His
NR_046480.1:n.970A>C
XM_006720947.2:c.646A>C	XP_006721010.1:p.Asn216His
XM_006720948.2:c.376A>C	XP_006721011.1:p.Asn126His
XM_006720947.4:c.646A>C	XP_006721010.1:p.Asn216His
XM_006720948.4:c.376A>C	XP_006721011.1:p.Asn126His
NM_024589.3:c.646A>C MANE Select	NP_078865.1:p.Asn216His
NR_046480.2:n.653A>C