Canonical Allele Identifier: CA508078000
Gene: FTL HGNC NCBI

Linked Data

dbSNP Id: rs2122434051
MyVariant Identifiers: chr19:g.49469561T>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48966304T>A , CM000681.2:g.48966304T>A GRCh38
NC_000019.9:g.49469561T>A , CM000681.1:g.49469561T>A GRCh37
NC_000019.8:g.54161373T>A NCBI36
NG_008152.1:g.5996T>A
NG_012923.1:g.32050A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000331825.11:c.273T>A MANE Select ENSP00000366525.2:p.Gly91=
ENST00000331825.10:c.273T>A ENSP00000366525.2:p.Gly91=
ENST00000622577.2:c.273T>A ENSP00000484043.1:p.Gly91=
NM_000146.3:c.273T>A NP_000137.2:p.Gly91=
XM_024451447.1:c.783T>A XP_024307215.1:p.Gly261=
NM_000146.4:c.273T>A MANE Select NP_000137.2:p.Gly91=
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