Canonical Allele Identifier: CA370624036
Gene: NEFL HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.24813931G>C (hg19) chr8:g.24956417G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.24956417G>C , CM000670.2:g.24956417G>C GRCh38
NC_000008.10:g.24813931G>C , CM000670.1:g.24813931G>C GRCh37
NC_000008.9:g.24869848G>C NCBI36
NG_008492.1:g.5201C>G , LRG_259:g.5201C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000610854.2:c.99C>G MANE Select ENSP00000482169.2:p.Tyr33Ter
ENST00000610854.1:c.99C>G ENSP00000482169.1:p.Tyr33Ter
ENST00000615973.1:n.305C>G
ENST00000619417.1:c.99C>G ENSP00000483690.1:p.Tyr33Ter
NM_006158.4:c.99C>G , LRG_259t1:c.99C>G NP_006149.2:p.Tyr33Ter
NM_006158.5:c.99C>G MANE Select NP_006149.2:p.Tyr33Ter
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