Canonical Allele Identifier: CA370624106
Gene: NEFL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.24956439A>C , CM000670.2:g.24956439A>C GRCh38
NC_000008.10:g.24813953A>C , CM000670.1:g.24813953A>C GRCh37
NC_000008.9:g.24869870A>C NCBI36
NG_008492.1:g.5179T>G , LRG_259:g.5179T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000610854.2:c.77T>G MANE Select ENSP00000482169.2:p.Ile26Ser
ENST00000610854.1:c.77T>G ENSP00000482169.1:p.Ile26Ser
ENST00000615973.1:n.283T>G
ENST00000619417.1:c.77T>G ENSP00000483690.1:p.Ile26Ser
NM_006158.4:c.77T>G , LRG_259t1:c.77T>G NP_006149.2:p.Ile26Ser
NM_006158.5:c.77T>G MANE Select NP_006149.2:p.Ile26Ser