Canonical Allele Identifier: CA1771621350
Gene: NEFL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.24956388T= , CM000670.2:g.24956388T= GRCh38
NC_000008.10:g.24813902T= , CM000670.1:g.24813902T= GRCh37
NC_000008.9:g.24869819T= NCBI36
NG_008492.1:g.5230A= , LRG_259:g.5230A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000610854.2:c.128A= MANE Select ENSP00000482169.2:p.Tyr43=
ENST00000610854.1:c.128A= ENSP00000482169.1:p.Tyr43=
ENST00000615973.1:n.334A=
ENST00000619417.1:c.128A= ENSP00000483690.1:p.Tyr43=
NM_006158.4:c.128A= , LRG_259t1:c.128A= NP_006149.2:p.Tyr43=
NM_006158.5:c.128A= MANE Select NP_006149.2:p.Tyr43=