Canonical Allele Identifier: CA217555
Gene: NEFL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.24956070G>A , CM000670.2:g.24956070G>A GRCh38
NC_000008.10:g.24813584G>A , CM000670.1:g.24813584G>A GRCh37
NC_000008.9:g.24869501G>A NCBI36
NG_008492.1:g.5548C>T , LRG_259:g.5548C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000610854.2:c.446C>T MANE Select ENSP00000482169.2:p.Ala149Val
ENST00000610854.1:c.446C>T ENSP00000482169.1:p.Ala149Val
ENST00000615973.1:n.652C>T
ENST00000619417.1:c.446C>T ENSP00000483690.1:p.Ala149Val
NM_006158.4:c.446C>T , LRG_259t1:c.446C>T NP_006149.2:p.Ala149Val
NM_006158.5:c.446C>T MANE Select NP_006149.2:p.Ala149Val