Canonical Allele Identifier: CA353129626

Gene: GNL3

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
NM_014366.5:c.116G>T MANE Select	NP_055181.3:p.Arg39Leu
ENST00000418458.6:c.116G>T MANE Select	ENSP00000395772.1:p.Arg39Leu
NM_014366.4:c.116G>T	NP_055181.3:p.Arg39Leu
NM_206825.1:c.80G>T	NP_996561.1:p.Arg27Leu
NM_206825.2:c.80G>T	NP_996561.1:p.Arg27Leu
NM_206826.1:c.80G>T	NP_996562.1:p.Arg27Leu
ENST00000394799.6:c.80G>T	ENSP00000378278.2:p.Arg27Leu
ENST00000418458.5:c.116G>T	ENSP00000395772.1:p.Arg39Leu
ENST00000460073.1:n.293G>T
ENST00000462550.5:n.177G>T
ENST00000468146.5:n.204G>T
ENST00000474423.1:c.80G>T	ENSP00000419895.1:p.Arg27Leu
ENST00000479230.5:c.80G>T	ENSP00000419734.1:p.Arg27Leu
ENST00000492349.5:c.116G>T	ENSP00000420345.1:p.Arg39Leu
ENST00000496254.5:n.160G>T