Canonical Allele Identifier: CA2586287961
Gene: FTL HGNC NCBI

Linked Data

gnomAD v4: 19-48965319-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48965319G>A , CM000681.2:g.48965319G>A GRCh38
NC_000019.9:g.49468576G>A , CM000681.1:g.49468576G>A GRCh37
NC_000019.8:g.54160388G>A NCBI36
NG_008152.1:g.5011G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000331825.11:c.-189G>A MANE Select ENSP00000366525.2:n.-189G>A
ENST00000331825.10:c.-189G>A ENSP00000366525.2:n.-189G>A
ENST00000622577.2:c.-189G>A ENSP00000484043.1:n.-189G>A
NM_000146.3:c.-189G>A NP_000137.2:n.-189G>A
XM_024451447.1:c.322G>A XP_024307215.1:p.Gly108Ser
NM_000146.4:c.-189G>A MANE Select NP_000137.2:n.-189G>A
Search 100 bp 5'
Search 100 bp 3'