Canonical Allele Identifier: CA1771621584
Community Standard Title: NM_006158.5(NEFL):c.65C= (p.Pro22=)
Gene: NEFL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.24956451G= , CM000670.2:g.24956451G= GRCh38
NC_000008.10:g.24813965G= , CM000670.1:g.24813965G= GRCh37
NC_000008.9:g.24869882G= NCBI36
NG_008492.1:g.5167C= , LRG_259:g.5167C=

Transcript Alleles

HGVS Amino-acid Change
NM_006158.5:c.65C= MANE Select NP_006149.2:p.Pro22=
ENST00000610854.2:c.65C= MANE Select ENSP00000482169.2:p.Pro22=
NM_006158.4:c.65C= , LRG_259t1:c.65C= NP_006149.2:p.Pro22=
ENST00000610854.1:c.65C= ENSP00000482169.1:p.Pro22=
ENST00000615973.1:n.271C=
ENST00000619417.1:c.65C= ENSP00000483690.1:p.Pro22=