Canonical Allele Identifier: CA493404975
Gene: ROGDI HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.4847947C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.4797946C>G , CM000678.2:g.4797946C>G GRCh38
NC_000016.9:g.4847947C>G , CM000678.1:g.4847947C>G GRCh37
NC_000016.8:g.4787948C>G NCBI36
NG_032174.1:g.10005G>C , LRG_455:g.10005G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000322048.12:c.687G>C MANE Select ENSP00000322832.6:p.Gly229=
ENST00000322048.11:c.687G>C ENSP00000322832.5:p.Gly229=
ENST00000586153.1:c.333G>C ENSP00000464699.1:p.Gly111=
ENST00000586336.5:n.786G>C
ENST00000586504.5:c.426-106G>C
ENST00000587377.5:c.*7G>C ENSP00000468343.1:n.*7G>C
ENST00000587711.5:c.372G>C ENSP00000467459.1:p.Gly124=
ENST00000587843.5:c.*425G>C ENSP00000465970.1:n.*425G>C
ENST00000588201.5:c.*678G>C ENSP00000466529.1:n.*678G>C
ENST00000589543.5:n.644G>C
ENST00000591292.5:n.2016G>C
ENST00000591392.5:c.615G>C ENSP00000467509.1:p.Gly205=
ENST00000592019.1:c.77-131G>C
NM_024589.2:c.687G>C , LRG_455t1:c.687G>C NP_078865.1:p.Gly229=
NR_046480.1:n.1011G>C
XM_006720947.2:c.687G>C XP_006721010.1:p.Gly229=
XM_006720948.2:c.417G>C XP_006721011.1:p.Gly139=
XM_006720947.4:c.687G>C XP_006721010.1:p.Gly229=
XM_006720948.4:c.417G>C XP_006721011.1:p.Gly139=
NM_024589.3:c.687G>C MANE Select NP_078865.1:p.Gly229=
NR_046480.2:n.694G>C