Canonical Allele Identifier: CA508078021
Gene: FTL HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.49469576C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48966319C>G , CM000681.2:g.48966319C>G GRCh38
NC_000019.9:g.49469576C>G , CM000681.1:g.49469576C>G GRCh37
NC_000019.8:g.54161388C>G NCBI36
NG_008152.1:g.6011C>G
NG_012923.1:g.32035G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000331825.11:c.288C>G MANE Select ENSP00000366525.2:p.Ala96=
ENST00000331825.10:c.288C>G ENSP00000366525.2:p.Ala96=
ENST00000622577.2:c.288C>G ENSP00000484043.1:p.Ala96=
NM_000146.3:c.288C>G NP_000137.2:p.Ala96=
XM_024451447.1:c.798C>G XP_024307215.1:p.Ala266=
NM_000146.4:c.288C>G MANE Select NP_000137.2:p.Ala96=