Canonical Allele Identifier: CA406757023
Gene: FTL HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.49469655G>A (hg19) chr19:g.48966398G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48966398G>A , CM000681.2:g.48966398G>A GRCh38
NC_000019.9:g.49469655G>A , CM000681.1:g.49469655G>A GRCh37
NC_000019.8:g.54161467G>A NCBI36
NG_008152.1:g.6090G>A
NG_012923.1:g.31956C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000331825.11:c.367G>A MANE Select ENSP00000366525.2:p.Asp123Asn
ENST00000331825.10:c.367G>A ENSP00000366525.2:p.Asp123Asn
ENST00000622577.2:c.367G>A ENSP00000484043.1:p.Asp123Asn
NM_000146.3:c.367G>A NP_000137.2:p.Asp123Asn
XM_024451447.1:c.877G>A XP_024307215.1:p.Asp293Asn
NM_000146.4:c.367G>A MANE Select NP_000137.2:p.Asp123Asn
Search 100 bp 5'
Search 100 bp 3'