Canonical Allele Identifier: CA406756751
Gene: FTL HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.49469579G>C (hg19) chr19:g.48966322G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48966322G>C , CM000681.2:g.48966322G>C GRCh38
NC_000019.9:g.49469579G>C , CM000681.1:g.49469579G>C GRCh37
NC_000019.8:g.54161391G>C NCBI36
NG_008152.1:g.6014G>C
NG_012923.1:g.32032C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000331825.11:c.291G>C MANE Select ENSP00000366525.2:p.Met97Ile
ENST00000331825.10:c.291G>C ENSP00000366525.2:p.Met97Ile
ENST00000622577.2:c.291G>C ENSP00000484043.1:p.Met97Ile
NM_000146.3:c.291G>C NP_000137.2:p.Met97Ile
XM_024451447.1:c.801G>C XP_024307215.1:p.Met267Ile
NM_000146.4:c.291G>C MANE Select NP_000137.2:p.Met97Ile
Search 100 bp 5'
Search 100 bp 3'