Canonical Allele Identifier: CA2586287969

Gene: FTL

Linked Data

• gnomAD v4: 19-48965327-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48965327G>T , CM000681.2:g.48965327G>T	GRCh38
NC_000019.9:g.49468584G>T , CM000681.1:g.49468584G>T	GRCh37
NC_000019.8:g.54160396G>T	NCBI36
NG_008152.1:g.5019G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331825.11:c.-181G>T MANE Select	ENSP00000366525.2:n.-181G>T
ENST00000331825.10:c.-181G>T	ENSP00000366525.2:n.-181G>T
ENST00000622577.2:c.-181G>T	ENSP00000484043.1:n.-181G>T
NM_000146.3:c.-181G>T	NP_000137.2:n.-181G>T
XM_024451447.1:c.330G>T	XP_024307215.1:p.Ala110=
NM_000146.4:c.-181G>T MANE Select	NP_000137.2:n.-181G>T