Canonical Allele Identifier: CA508078052
Gene: FTL HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.49469606G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48966349G>A , CM000681.2:g.48966349G>A GRCh38
NC_000019.9:g.49469606G>A , CM000681.1:g.49469606G>A GRCh37
NC_000019.8:g.54161418G>A NCBI36
NG_008152.1:g.6041G>A
NG_012923.1:g.32005C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000331825.11:c.318G>A MANE Select ENSP00000366525.2:p.Lys106=
ENST00000331825.10:c.318G>A ENSP00000366525.2:p.Lys106=
ENST00000622577.2:c.318G>A ENSP00000484043.1:p.Lys106=
NM_000146.3:c.318G>A NP_000137.2:p.Lys106=
XM_024451447.1:c.828G>A XP_024307215.1:p.Lys276=
NM_000146.4:c.318G>A MANE Select NP_000137.2:p.Lys106=