Canonical Allele Identifier: CA370624022
Gene: NEFL HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.24813927T>G (hg19) chr8:g.24956413T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.24956413T>G , CM000670.2:g.24956413T>G GRCh38
NC_000008.10:g.24813927T>G , CM000670.1:g.24813927T>G GRCh37
NC_000008.9:g.24869844T>G NCBI36
NG_008492.1:g.5205A>C , LRG_259:g.5205A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000610854.2:c.103A>C MANE Select ENSP00000482169.2:p.Thr35Pro
ENST00000610854.1:c.103A>C ENSP00000482169.1:p.Thr35Pro
ENST00000615973.1:n.309A>C
ENST00000619417.1:c.103A>C ENSP00000483690.1:p.Thr35Pro
NM_006158.4:c.103A>C , LRG_259t1:c.103A>C NP_006149.2:p.Thr35Pro
NM_006158.5:c.103A>C MANE Select NP_006149.2:p.Thr35Pro
Search 100 bp 5'
Search 100 bp 3'