Canonical Allele Identifier: CA126560
Community Standard Title: NM_002032.3(FTH1):c.-164A>T
Gene: FTH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.61967589T>A , CM000673.2:g.61967589T>A GRCh38
NC_000011.9:g.61735061T>A , CM000673.1:g.61735061T>A GRCh37
NC_000011.8:g.61491637T>A NCBI36
NG_008346.1:g.5072A>T

Transcript Alleles

HGVS Amino-acid Change
NM_002032.3:c.-164A>T MANE Select NP_002023.2:n.-164A>T
ENST00000273550.12:c.-164A>T MANE Select ENSP00000273550.7:n.-164A>T
NM_002032.2:c.-164A>T NP_002023.2:n.-164A>T
ENST00000273550.11:c.-164A>T ENSP00000273550.7:n.-164A>T
ENST00000526640.5:c.-164A>T ENSP00000433321.1:n.-164A>T
ENST00000529191.5:c.-164A>T ENSP00000431659.1:n.-164A>T
ENST00000529548.1:c.-350A>T ENSP00000436947.1:n.-350A>T
ENST00000529631.5:c.-164A>T ENSP00000431575.1:n.-164A>T
ENST00000530019.5:c.-164A>T ENSP00000433470.1:n.-164A>T
ENST00000532829.5:c.-164A>T ENSP00000432223.1:n.-164A>T
ENST00000533138.1:n.25A>T
ENST00000534180.1:c.-164A>T ENSP00000434403.1:n.-164A>T
ENST00000620041.4:c.-70A>T ENSP00000484477.1:n.-70A>T
ENST00000620041.5:c.-75A>T ENSP00000484477.1:n.-75A>T