Canonical Allele Identifier: CA508078084
Gene: FTL HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.49469627T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48966370T>C , CM000681.2:g.48966370T>C GRCh38
NC_000019.9:g.49469627T>C , CM000681.1:g.49469627T>C GRCh37
NC_000019.8:g.54161439T>C NCBI36
NG_008152.1:g.6062T>C
NG_012923.1:g.31984A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000331825.11:c.339T>C MANE Select ENSP00000366525.2:p.Asp113=
ENST00000331825.10:c.339T>C ENSP00000366525.2:p.Asp113=
ENST00000622577.2:c.339T>C ENSP00000484043.1:p.Asp113=
NM_000146.3:c.339T>C NP_000137.2:p.Asp113=
XM_024451447.1:c.849T>C XP_024307215.1:p.Asp283=
NM_000146.4:c.339T>C MANE Select NP_000137.2:p.Asp113=
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