Canonical Allele Identifier: CA394656477
Community Standard Title: NM_024589.3(ROGDI):c.117+1G>T
Gene: ROGDI HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.4802381C>A , CM000678.2:g.4802381C>A GRCh38
NC_000016.9:g.4852382C>A , CM000678.1:g.4852382C>A GRCh37
NC_000016.8:g.4792383C>A NCBI36
NG_032174.1:g.5570G>T , LRG_455:g.5570G>T

Transcript Alleles

HGVS Amino-acid Change
NM_024589.3:c.117+1G>T MANE Select NP_078865.1:n.117+1G>T
ENST00000322048.12:c.117+1G>T MANE Select ENSP00000322832.6:n.117+1G>T
NM_024589.2:c.117+1G>T , LRG_455t1:c.117+1G>T NP_078865.1:n.117+1G>T
NR_046480.1:n.496+1G>T
NR_046480.2:n.179+1G>T
ENST00000322048.11:c.117+1G>T ENSP00000322832.5:n.117+1G>T
ENST00000585653.1:n.249+1G>T
ENST00000585871.1:n.426+1G>T
ENST00000587377.5:c.117+1G>T ENSP00000468343.1:n.117+1G>T
ENST00000587711.5:c.117+1G>T ENSP00000467459.1:n.117+1G>T
ENST00000587843.5:c.117+1G>T ENSP00000465970.1:n.117+1G>T
ENST00000588201.5:c.117+1G>T ENSP00000466529.1:n.117+1G>T
ENST00000590198.1:n.284+1G>T
ENST00000591392.5:c.45+146G>T ENSP00000467509.1:n.45+146G>T
ENST00000592112.1:n.403G>T
XM_006720947.2:c.117+1G>T XP_006721010.1:n.117+1G>T
XM_006720947.4:c.117+1G>T XP_006721010.1:n.117+1G>T
XM_006720948.2:c.-99+1G>T XP_006721011.1:n.-99+1G>T
XM_006720948.4:c.-99+1G>T XP_006721011.1:n.-99+1G>T