Canonical Allele Identifier: CA1977538969

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.61964517T= , CM000673.2:g.61964517T= GRCh38
NC_000011.9:g.61731989T= , CM000673.1:g.61731989T= GRCh37
NC_000011.8:g.61488565T= NCBI36
NG_008346.1:g.8144A=
NG_009033.1:g.19634T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000273550.12:c.*210A= (FTH1) MANE Select ENSP00000273550.7:n.*210A=
ENST00000273550.11:c.*210A= (FTH1) ENSP00000273550.7:n.*210A=
ENST00000449131.6:c.*1368T= (BEST1) ENSP00000399709.2:n.*1368T=
ENST00000529191.5:c.114+2795A= (FTH1) ENSP00000431659.1:n.114+2795A=
ENST00000529631.5:c.114+2795A= (FTH1) ENSP00000431575.1:n.114+2795A=
ENST00000530019.5:c.261+852A= (FTH1) ENSP00000433470.1:n.261+852A=
NM_002032.2:c.*210A= (FTH1) NP_002023.2:n.*210A=
NM_002032.3:c.*210A= (FTH1) MANE Select NP_002023.2:n.*210A=
NM_001139443.2:c.*1368T= (BEST1) NP_001132915.1:n.*1368T=
NM_001363591.2:c.*1368T= (BEST1) NP_001350520.1:n.*1368T=
NM_001363593.2:c.*1368T= (BEST1) NP_001350522.1:n.*1368T=