Canonical Allele Identifier: CA406756361
Gene: FTL HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.49469109G>A (hg19) chr19:g.48965852G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48965852G>A , CM000681.2:g.48965852G>A GRCh38
NC_000019.9:g.49469109G>A , CM000681.1:g.49469109G>A GRCh37
NC_000019.8:g.54160921G>A NCBI36
NG_008152.1:g.5544G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000331825.11:c.185G>A MANE Select ENSP00000366525.2:p.Gly62Asp
ENST00000331825.10:c.185G>A ENSP00000366525.2:p.Gly62Asp
ENST00000622577.2:c.185G>A ENSP00000484043.1:p.Gly62Asp
NM_000146.3:c.185G>A NP_000137.2:p.Gly62Asp
XM_024451447.1:c.695G>A XP_024307215.1:p.Gly232Asp
NM_000146.4:c.185G>A MANE Select NP_000137.2:p.Gly62Asp
Search 100 bp 5'
Search 100 bp 3'