Canonical Allele Identifier: CA493320312
Gene: ROGDI HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.4849699A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.4799698A>C , CM000678.2:g.4799698A>C GRCh38
NC_000016.9:g.4849699A>C , CM000678.1:g.4849699A>C GRCh37
NC_000016.8:g.4789700A>C NCBI36
NG_032174.1:g.8253T>G , LRG_455:g.8253T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000322048.12:c.420T>G MANE Select ENSP00000322832.6:p.Ala140=
ENST00000322048.11:c.420T>G ENSP00000322832.5:p.Ala140=
ENST00000585653.1:n.552T>G
ENST00000586153.1:c.165T>G ENSP00000464699.1:p.Ala55=
ENST00000586336.5:n.519T>G
ENST00000586504.5:c.200T>G
ENST00000587377.5:c.420T>G ENSP00000468343.1:p.Ala140=
ENST00000587711.5:c.118-1031T>G ENSP00000467459.1:n.118-1031T>G
ENST00000587843.5:c.*158T>G ENSP00000465970.1:n.*158T>G
ENST00000588201.5:c.*277T>G ENSP00000466529.1:n.*277T>G
ENST00000589543.5:n.377T>G
ENST00000591292.5:n.1749T>G
ENST00000591392.5:c.348T>G ENSP00000467509.1:p.Ala116=
ENST00000592019.1:c.76+63T>G
NM_024589.2:c.420T>G , LRG_455t1:c.420T>G NP_078865.1:p.Ala140=
NR_046480.1:n.744T>G
XM_006720947.2:c.420T>G XP_006721010.1:p.Ala140=
XM_006720948.2:c.150T>G XP_006721011.1:p.Ala50=
XM_006720947.4:c.420T>G XP_006721010.1:p.Ala140=
XM_006720948.4:c.150T>G XP_006721011.1:p.Ala50=
NM_024589.3:c.420T>G MANE Select NP_078865.1:p.Ala140=
NR_046480.2:n.427T>G