Canonical Allele Identifier: CA406756825
Gene: FTL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48966342A>T , CM000681.2:g.48966342A>T GRCh38
NC_000019.9:g.49469599A>T , CM000681.1:g.49469599A>T GRCh37
NC_000019.8:g.54161411A>T NCBI36
NG_008152.1:g.6034A>T
NG_012923.1:g.32012T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000331825.11:c.311A>T MANE Select ENSP00000366525.2:p.Glu104Val
ENST00000331825.10:c.311A>T ENSP00000366525.2:p.Glu104Val
ENST00000622577.2:c.311A>T ENSP00000484043.1:p.Glu104Val
NM_000146.3:c.311A>T NP_000137.2:p.Glu104Val
XM_024451447.1:c.821A>T XP_024307215.1:p.Glu274Val
NM_000146.4:c.311A>T MANE Select NP_000137.2:p.Glu104Val