Canonical Allele Identifier: CA406756619

Gene: FTL

Linked Data

• MyVariant Identifiers: chr19:g.49469540G>T (hg19) ; chr19:g.48966283G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48966283G>T , CM000681.2:g.48966283G>T	GRCh38
NC_000019.9:g.49469540G>T , CM000681.1:g.49469540G>T	GRCh37
NC_000019.8:g.54161352G>T	NCBI36
NG_008152.1:g.5975G>T
NG_012923.1:g.32071C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331825.11:c.252G>T MANE Select	ENSP00000366525.2:p.Lys84Asn
ENST00000331825.10:c.252G>T	ENSP00000366525.2:p.Lys84Asn
ENST00000622577.2:c.252G>T	ENSP00000484043.1:p.Lys84Asn
NM_000146.3:c.252G>T	NP_000137.2:p.Lys84Asn
XM_024451447.1:c.762G>T	XP_024307215.1:p.Lys254Asn
NM_000146.4:c.252G>T MANE Select	NP_000137.2:p.Lys84Asn