Canonical Allele Identifier: CA406756814
Gene: FTL HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.49469596T>A (hg19) chr19:g.48966339T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48966339T>A , CM000681.2:g.48966339T>A GRCh38
NC_000019.9:g.49469596T>A , CM000681.1:g.49469596T>A GRCh37
NC_000019.8:g.54161408T>A NCBI36
NG_008152.1:g.6031T>A
NG_012923.1:g.32015A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000331825.11:c.308T>A MANE Select ENSP00000366525.2:p.Leu103Gln
ENST00000331825.10:c.308T>A ENSP00000366525.2:p.Leu103Gln
ENST00000622577.2:c.308T>A ENSP00000484043.1:p.Leu103Gln
NM_000146.3:c.308T>A NP_000137.2:p.Leu103Gln
XM_024451447.1:c.818T>A XP_024307215.1:p.Leu273Gln
NM_000146.4:c.308T>A MANE Select NP_000137.2:p.Leu103Gln
Search 100 bp 5'
Search 100 bp 3'