Canonical Allele Identifier: CA406755968
Gene: FTL HGNC NCBI

Linked Data

gnomAD v4: 19-48965771-G-A
MyVariant Identifiers: chr19:g.49469028G>A (hg19) chr19:g.48965771G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48965771G>A , CM000681.2:g.48965771G>A GRCh38
NC_000019.9:g.49469028G>A , CM000681.1:g.49469028G>A GRCh37
NC_000019.8:g.54160840G>A NCBI36
NG_008152.1:g.5463G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000331825.11:c.104G>A MANE Select ENSP00000366525.2:p.Gly35Asp
ENST00000331825.10:c.104G>A ENSP00000366525.2:p.Gly35Asp
ENST00000622577.2:c.104G>A ENSP00000484043.1:p.Gly35Asp
NM_000146.3:c.104G>A NP_000137.2:p.Gly35Asp
XM_024451447.1:c.614G>A XP_024307215.1:p.Gly205Asp
NM_000146.4:c.104G>A MANE Select NP_000137.2:p.Gly35Asp
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