Canonical Allele Identifier: CA370624187
Gene: NEFL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.24956464A>C , CM000670.2:g.24956464A>C GRCh38
NC_000008.10:g.24813978A>C , CM000670.1:g.24813978A>C GRCh37
NC_000008.9:g.24869895A>C NCBI36
NG_008492.1:g.5154T>G , LRG_259:g.5154T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000610854.2:c.52T>G MANE Select ENSP00000482169.2:p.Tyr18Asp
ENST00000610854.1:c.52T>G ENSP00000482169.1:p.Tyr18Asp
ENST00000615973.1:n.258T>G
ENST00000619417.1:c.52T>G ENSP00000483690.1:p.Tyr18Asp
NM_006158.4:c.52T>G , LRG_259t1:c.52T>G NP_006149.2:p.Tyr18Asp
NM_006158.5:c.52T>G MANE Select NP_006149.2:p.Tyr18Asp