Canonical Allele Identifier: CA353129635

Gene: GNL3

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
NM_014366.5:c.116G>C MANE Select	NP_055181.3:p.Arg39Pro
ENST00000418458.6:c.116G>C MANE Select	ENSP00000395772.1:p.Arg39Pro
NM_014366.4:c.116G>C	NP_055181.3:p.Arg39Pro
NM_206825.1:c.80G>C	NP_996561.1:p.Arg27Pro
NM_206825.2:c.80G>C	NP_996561.1:p.Arg27Pro
NM_206826.1:c.80G>C	NP_996562.1:p.Arg27Pro
ENST00000394799.6:c.80G>C	ENSP00000378278.2:p.Arg27Pro
ENST00000418458.5:c.116G>C	ENSP00000395772.1:p.Arg39Pro
ENST00000460073.1:n.293G>C
ENST00000462550.5:n.177G>C
ENST00000468146.5:n.204G>C
ENST00000474423.1:c.80G>C	ENSP00000419895.1:p.Arg27Pro
ENST00000479230.5:c.80G>C	ENSP00000419734.1:p.Arg27Pro
ENST00000492349.5:c.116G>C	ENSP00000420345.1:p.Arg39Pro
ENST00000496254.5:n.160G>C