Canonical Allele Identifier: CA394655283
Community Standard Title: NM_024589.3(ROGDI):c.169A>T (p.Lys57Ter)
Gene: ROGDI HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.4801534T>A , CM000678.2:g.4801534T>A GRCh38
NC_000016.9:g.4851535T>A , CM000678.1:g.4851535T>A GRCh37
NC_000016.8:g.4791536T>A NCBI36
NG_032174.1:g.6417A>T , LRG_455:g.6417A>T

Transcript Alleles

HGVS Amino-acid Change
NM_024589.3:c.169A>T MANE Select NP_078865.1:p.Lys57Ter
ENST00000322048.12:c.169A>T MANE Select ENSP00000322832.6:p.Lys57Ter
NM_024589.2:c.169A>T , LRG_455t1:c.169A>T NP_078865.1:p.Lys57Ter
NR_046480.1:n.548A>T
NR_046480.2:n.231A>T
ENST00000322048.11:c.169A>T ENSP00000322832.5:p.Lys57Ter
ENST00000585653.1:n.301A>T
ENST00000585871.1:n.478A>T
ENST00000586336.5:n.323A>T
ENST00000587377.5:c.169A>T ENSP00000468343.1:p.Lys57Ter
ENST00000587711.5:c.117+848A>T ENSP00000467459.1:n.117+848A>T
ENST00000587843.5:c.169A>T ENSP00000465970.1:p.Lys57Ter
ENST00000588201.5:c.169A>T ENSP00000466529.1:p.Lys57Ter
ENST00000589543.5:n.126A>T
ENST00000590198.1:n.336A>T
ENST00000591292.5:n.629A>T
ENST00000591392.5:c.97A>T ENSP00000467509.1:p.Lys33Ter
XM_006720947.2:c.169A>T XP_006721010.1:p.Lys57Ter
XM_006720947.4:c.169A>T XP_006721010.1:p.Lys57Ter
XM_006720948.2:c.-47A>T XP_006721011.1:n.-47A>T
XM_006720948.4:c.-47A>T XP_006721011.1:n.-47A>T