Canonical Allele Identifier: CA1771657810
Community Standard Title: NM_006158.5(NEFL):c.794A= (p.Tyr265=)
Gene: NEFL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.24955722T= , CM000670.2:g.24955722T= GRCh38
NC_000008.10:g.24813236T= , CM000670.1:g.24813236T= GRCh37
NC_000008.9:g.24869153T= NCBI36
NG_008492.1:g.5896A= , LRG_259:g.5896A=

Transcript Alleles

HGVS Amino-acid Change
NM_006158.5:c.794A= MANE Select NP_006149.2:p.Tyr265=
ENST00000610854.2:c.794A= MANE Select ENSP00000482169.2:p.Tyr265=
NM_006158.4:c.794A= , LRG_259t1:c.794A= NP_006149.2:p.Tyr265=
ENST00000610854.1:c.794A= ENSP00000482169.1:p.Tyr265=
ENST00000615973.1:n.1000A=
ENST00000619417.1:c.593-78A= ENSP00000483690.1:n.593-78A=