Canonical Allele Identifier: CA406756693
Gene: FTL HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.49469563A>C (hg19) chr19:g.48966306A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48966306A>C , CM000681.2:g.48966306A>C GRCh38
NC_000019.9:g.49469563A>C , CM000681.1:g.49469563A>C GRCh37
NC_000019.8:g.54161375A>C NCBI36
NG_008152.1:g.5998A>C
NG_012923.1:g.32048T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000331825.11:c.275A>C MANE Select ENSP00000366525.2:p.Lys92Thr
ENST00000331825.10:c.275A>C ENSP00000366525.2:p.Lys92Thr
ENST00000622577.2:c.275A>C ENSP00000484043.1:p.Lys92Thr
NM_000146.3:c.275A>C NP_000137.2:p.Lys92Thr
XM_024451447.1:c.785A>C XP_024307215.1:p.Lys262Thr
NM_000146.4:c.275A>C MANE Select NP_000137.2:p.Lys92Thr
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