Canonical Allele Identifier: CA309375818
Gene: FTL HGNC NCBI

Linked Data

dbSNP Id: rs549311032
gnomAD v4: 19-48965851-G-A
MyVariant Identifiers: chr19:g.49469108G>A (hg19) chr19:g.48965851G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48965851G>A , CM000681.2:g.48965851G>A GRCh38
NC_000019.9:g.49469108G>A , CM000681.1:g.49469108G>A GRCh37
NC_000019.8:g.54160920G>A NCBI36
NG_008152.1:g.5543G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000331825.11:c.184G>A MANE Select ENSP00000366525.2:p.Gly62Ser
ENST00000331825.10:c.184G>A ENSP00000366525.2:p.Gly62Ser
ENST00000622577.2:c.184G>A ENSP00000484043.1:p.Gly62Ser
NM_000146.3:c.184G>A NP_000137.2:p.Gly62Ser
XM_024451447.1:c.694G>A XP_024307215.1:p.Gly232Ser
NM_000146.4:c.184G>A MANE Select NP_000137.2:p.Gly62Ser
Search 100 bp 5'
Search 100 bp 3'