Canonical Allele Identifier: CA370624166
Gene: NEFL HGNC NCBI

Linked Data

dbSNP Id: rs1803058502
MyVariant Identifiers: chr8:g.24813971T>G (hg19) chr8:g.24956457T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.24956457T>G , CM000670.2:g.24956457T>G GRCh38
NC_000008.10:g.24813971T>G , CM000670.1:g.24813971T>G GRCh37
NC_000008.9:g.24869888T>G NCBI36
NG_008492.1:g.5161A>C , LRG_259:g.5161A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000610854.2:c.59A>C MANE Select ENSP00000482169.2:p.Glu20Ala
ENST00000610854.1:c.59A>C ENSP00000482169.1:p.Glu20Ala
ENST00000615973.1:n.265A>C
ENST00000619417.1:c.59A>C ENSP00000483690.1:p.Glu20Ala
NM_006158.4:c.59A>C , LRG_259t1:c.59A>C NP_006149.2:p.Glu20Ala
NM_006158.5:c.59A>C MANE Select NP_006149.2:p.Glu20Ala
Search 100 bp 5'
Search 100 bp 3'