Canonical Allele Identifier: CA406756351
Gene: FTL HGNC NCBI

Linked Data

dbSNP Id: rs2038446585
MyVariant Identifiers: chr19:g.49469107G>C (hg19) chr19:g.48965850G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48965850G>C , CM000681.2:g.48965850G>C GRCh38
NC_000019.9:g.49469107G>C , CM000681.1:g.49469107G>C GRCh37
NC_000019.8:g.54160919G>C NCBI36
NG_008152.1:g.5542G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000331825.11:c.183G>C MANE Select ENSP00000366525.2:p.Glu61Asp
ENST00000331825.10:c.183G>C ENSP00000366525.2:p.Glu61Asp
ENST00000622577.2:c.183G>C ENSP00000484043.1:p.Glu61Asp
NM_000146.3:c.183G>C NP_000137.2:p.Glu61Asp
XM_024451447.1:c.693G>C XP_024307215.1:p.Glu231Asp
NM_000146.4:c.183G>C MANE Select NP_000137.2:p.Glu61Asp
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