Canonical Allele Identifier: CA2586287973

Gene: FTL

Linked Data

• gnomAD v4: 19-48965333-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48965333G>T , CM000681.2:g.48965333G>T	GRCh38
NC_000019.9:g.49468590G>T , CM000681.1:g.49468590G>T	GRCh37
NC_000019.8:g.54160402G>T	NCBI36
NG_008152.1:g.5025G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331825.11:c.-175G>T MANE Select	ENSP00000366525.2:n.-175G>T
ENST00000331825.10:c.-175G>T	ENSP00000366525.2:n.-175G>T
ENST00000622577.2:c.-175G>T	ENSP00000484043.1:n.-175G>T
NM_000146.3:c.-175G>T	NP_000137.2:n.-175G>T
XM_024451447.1:c.336G>T	XP_024307215.1:p.Leu112=
NM_000146.4:c.-175G>T MANE Select	NP_000137.2:n.-175G>T