Canonical Allele Identifier: CA509549456
Community Standard Title: NM_006392.4(NOP56):c.909G>A (p.Ala303=)
Gene: NOP56 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.2655746G>A , CM000682.2:g.2655746G>A GRCh38
NC_000020.10:g.2636392G>A , CM000682.1:g.2636392G>A GRCh37
NC_000020.9:g.2584392G>A NCBI36
NG_032136.1:g.8215G>A

Transcript Alleles

HGVS Amino-acid Change
NM_006392.4:c.909G>A MANE Select NP_006383.2:p.Ala303=
ENST00000329276.10:c.909G>A MANE Select ENSP00000370589.3:p.Ala303=
NM_006392.3:c.909G>A NP_006383.2:p.Ala303=
NR_027700.2:n.1038G>A
NR_027700.3:n.938G>A
NR_145428.1:n.1038G>A
NR_145428.2:n.938G>A
ENST00000329276.9:c.909G>A ENSP00000370589.3:p.Ala303=
ENST00000415272.2:c.131G>A
ENST00000467196.5:c.229G>A
ENST00000480992.5:n.499G>A
ENST00000484998.5:n.568G>A
ENST00000612233.1:n.334G>A
ENST00000616692.1:n.200G>A
ENST00000651302.1:c.909G>A ENSP00000498831.1:p.Ala303=