Canonical Allele Identifier: CA370624041
Gene: NEFL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.24956418T>G , CM000670.2:g.24956418T>G GRCh38
NC_000008.10:g.24813932T>G , CM000670.1:g.24813932T>G GRCh37
NC_000008.9:g.24869849T>G NCBI36
NG_008492.1:g.5200A>C , LRG_259:g.5200A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000610854.2:c.98A>C MANE Select ENSP00000482169.2:p.Tyr33Ser
ENST00000610854.1:c.98A>C ENSP00000482169.1:p.Tyr33Ser
ENST00000615973.1:n.304A>C
ENST00000619417.1:c.98A>C ENSP00000483690.1:p.Tyr33Ser
NM_006158.4:c.98A>C , LRG_259t1:c.98A>C NP_006149.2:p.Tyr33Ser
NM_006158.5:c.98A>C MANE Select NP_006149.2:p.Tyr33Ser