Canonical Allele Identifier: CA370623931
Gene: NEFL HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.24813900A>C (hg19) chr8:g.24956386A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.24956386A>C , CM000670.2:g.24956386A>C GRCh38
NC_000008.10:g.24813900A>C , CM000670.1:g.24813900A>C GRCh37
NC_000008.9:g.24869817A>C NCBI36
NG_008492.1:g.5232T>G , LRG_259:g.5232T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000610854.2:c.130T>G MANE Select ENSP00000482169.2:p.Ser44Ala
ENST00000610854.1:c.130T>G ENSP00000482169.1:p.Ser44Ala
ENST00000615973.1:n.336T>G
ENST00000619417.1:c.130T>G ENSP00000483690.1:p.Ser44Ala
NM_006158.4:c.130T>G , LRG_259t1:c.130T>G NP_006149.2:p.Ser44Ala
NM_006158.5:c.130T>G MANE Select NP_006149.2:p.Ser44Ala
Search 100 bp 5'
Search 100 bp 3'