Canonical Allele Identifier: CA1771658877
Community Standard Title: NM_006158.5(NEFL):c.487G= (p.Glu163=)
Gene: NEFL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.24956029C= , CM000670.2:g.24956029C= GRCh38
NC_000008.10:g.24813543C= , CM000670.1:g.24813543C= GRCh37
NC_000008.9:g.24869460C= NCBI36
NG_008492.1:g.5589G= , LRG_259:g.5589G=

Transcript Alleles

HGVS Amino-acid Change
NM_006158.5:c.487G= MANE Select NP_006149.2:p.Glu163=
ENST00000610854.2:c.487G= MANE Select ENSP00000482169.2:p.Glu163=
NM_006158.4:c.487G= , LRG_259t1:c.487G= NP_006149.2:p.Glu163=
ENST00000610854.1:c.487G= ENSP00000482169.1:p.Glu163=
ENST00000615973.1:n.693G=
ENST00000619417.1:c.487G= ENSP00000483690.1:p.Glu163=