Canonical Allele Identifier: CA1364976863
Community Standard Title: NM_014366.5(GNL3):c.116G= (p.Arg39=)
Gene: GNL3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.52687289G= , CM000665.2:g.52687289G= GRCh38
NC_000003.11:g.52721305G= , CM000665.1:g.52721305G= GRCh37
NC_000003.10:g.52696345G= NCBI36
NG_027871.1:g.6370G=
NG_032108.1:g.3562C=

Transcript Alleles

HGVS Amino-acid Change
NM_014366.5:c.116G= MANE Select NP_055181.3:p.Arg39=
ENST00000418458.6:c.116G= MANE Select ENSP00000395772.1:p.Arg39=
NM_014366.4:c.116G= NP_055181.3:p.Arg39=
NM_206825.1:c.80G= NP_996561.1:p.Arg27=
NM_206825.2:c.80G= NP_996561.1:p.Arg27=
NM_206826.1:c.80G= NP_996562.1:p.Arg27=
ENST00000394799.6:c.80G= ENSP00000378278.2:p.Arg27=
ENST00000418458.5:c.116G= ENSP00000395772.1:p.Arg39=
ENST00000460073.1:n.293G=
ENST00000462550.5:n.177G=
ENST00000468146.5:n.204G=
ENST00000474423.1:c.80G= ENSP00000419895.1:p.Arg27=
ENST00000479230.5:c.80G= ENSP00000419734.1:p.Arg27=
ENST00000492349.5:c.116G= ENSP00000420345.1:p.Arg39=
ENST00000496254.5:n.160G=