Canonical Allele Identifier: CA493404732
Gene: ROGDI HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.4847977T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.4797976T>G , CM000678.2:g.4797976T>G GRCh38
NC_000016.9:g.4847977T>G , CM000678.1:g.4847977T>G GRCh37
NC_000016.8:g.4787978T>G NCBI36
NG_032174.1:g.9975A>C , LRG_455:g.9975A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000322048.12:c.657A>C MANE Select ENSP00000322832.6:p.Pro219=
ENST00000322048.11:c.657A>C ENSP00000322832.5:p.Pro219=
ENST00000586153.1:c.303A>C ENSP00000464699.1:p.Pro101=
ENST00000586336.5:n.756A>C
ENST00000586504.5:c.425+95A>C
ENST00000587377.5:c.670A>C ENSP00000468343.1:p.Ser224Arg
ENST00000587711.5:c.342A>C ENSP00000467459.1:p.Pro114=
ENST00000587843.5:c.*395A>C ENSP00000465970.1:n.*395A>C
ENST00000588201.5:c.*648A>C ENSP00000466529.1:n.*648A>C
ENST00000589543.5:n.614A>C
ENST00000591292.5:n.1986A>C
ENST00000591392.5:c.585A>C ENSP00000467509.1:p.Pro195=
ENST00000592019.1:c.77-161A>C
NM_024589.2:c.657A>C , LRG_455t1:c.657A>C NP_078865.1:p.Pro219=
NR_046480.1:n.981A>C
XM_006720947.2:c.657A>C XP_006721010.1:p.Pro219=
XM_006720948.2:c.387A>C XP_006721011.1:p.Pro129=
XM_006720947.4:c.657A>C XP_006721010.1:p.Pro219=
XM_006720948.4:c.387A>C XP_006721011.1:p.Pro129=
NM_024589.3:c.657A>C MANE Select NP_078865.1:p.Pro219=
NR_046480.2:n.664A>C