Canonical Allele Identifier: CA1771621483
Gene: NEFL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.24956427C= , CM000670.2:g.24956427C= GRCh38
NC_000008.10:g.24813941C= , CM000670.1:g.24813941C= GRCh37
NC_000008.9:g.24869858C= NCBI36
NG_008492.1:g.5191G= , LRG_259:g.5191G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000610854.2:c.89G= MANE Select ENSP00000482169.2:p.Arg30=
ENST00000610854.1:c.89G= ENSP00000482169.1:p.Arg30=
ENST00000615973.1:n.295G=
ENST00000619417.1:c.89G= ENSP00000483690.1:p.Arg30=
NM_006158.4:c.89G= , LRG_259t1:c.89G= NP_006149.2:p.Arg30=
NM_006158.5:c.89G= MANE Select NP_006149.2:p.Arg30=