Canonical Allele Identifier: CA493404802
Gene: ROGDI HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.4848081G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.4798080G>A , CM000678.2:g.4798080G>A GRCh38
NC_000016.9:g.4848081G>A , CM000678.1:g.4848081G>A GRCh37
NC_000016.8:g.4788082G>A NCBI36
NG_032174.1:g.9871C>T , LRG_455:g.9871C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000322048.12:c.636C>T MANE Select ENSP00000322832.6:p.Asn212=
ENST00000322048.11:c.636C>T ENSP00000322832.5:p.Asn212=
ENST00000586153.1:c.282C>T ENSP00000464699.1:p.Asn94=
ENST00000586336.5:n.735C>T
ENST00000586504.5:c.416C>T
ENST00000587377.5:c.649C>T ENSP00000468343.1:p.Leu217Phe
ENST00000587711.5:c.321C>T ENSP00000467459.1:p.Asn107=
ENST00000587843.5:c.*374C>T ENSP00000465970.1:n.*374C>T
ENST00000588201.5:c.*627C>T ENSP00000466529.1:n.*627C>T
ENST00000589543.5:n.593C>T
ENST00000591292.5:n.1965C>T
ENST00000591392.5:c.564C>T ENSP00000467509.1:p.Asn188=
ENST00000592019.1:c.77-265C>T
NM_024589.2:c.636C>T , LRG_455t1:c.636C>T NP_078865.1:p.Asn212=
NR_046480.1:n.960C>T
XM_006720947.2:c.636C>T XP_006721010.1:p.Asn212=
XM_006720948.2:c.366C>T XP_006721011.1:p.Asn122=
XM_006720947.4:c.636C>T XP_006721010.1:p.Asn212=
XM_006720948.4:c.366C>T XP_006721011.1:p.Asn122=
NM_024589.3:c.636C>T MANE Select NP_078865.1:p.Asn212=
NR_046480.2:n.643C>T