Canonical Allele Identifier: CA2586287890
Gene: FTL HGNC NCBI

Linked Data

gnomAD v4: 19-48965240-C-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48965240C>A , CM000681.2:g.48965240C>A GRCh38
NC_000019.9:g.49468497C>A , CM000681.1:g.49468497C>A GRCh37
NC_000019.8:g.54160309C>A NCBI36
NG_008152.1:g.4932C>A

Transcript Alleles

HGVS Amino-acid Change
XM_024451447.1:c.243C>A XP_024307215.1:p.Ser81Arg
Search 100 bp 5'
Search 100 bp 3'