Canonical Allele Identifier: CA1977538928

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.61964475T= , CM000673.2:g.61964475T= GRCh38
NC_000011.9:g.61731947T= , CM000673.1:g.61731947T= GRCh37
NC_000011.8:g.61488523T= NCBI36
NG_008346.1:g.8186A=
NG_009033.1:g.19592T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000273550.12:c.*252A= (FTH1) MANE Select ENSP00000273550.7:n.*252A=
ENST00000273550.11:c.*252A= (FTH1) ENSP00000273550.7:n.*252A=
ENST00000449131.6:c.*1326T= (BEST1) ENSP00000399709.2:n.*1326T=
ENST00000529191.5:c.114+2837A= (FTH1) ENSP00000431659.1:n.114+2837A=
ENST00000529631.5:c.114+2837A= (FTH1) ENSP00000431575.1:n.114+2837A=
ENST00000530019.5:c.261+894A= (FTH1) ENSP00000433470.1:n.261+894A=
NM_002032.2:c.*252A= (FTH1) NP_002023.2:n.*252A=
NM_002032.3:c.*252A= (FTH1) MANE Select NP_002023.2:n.*252A=
NM_001139443.2:c.*1326T= (BEST1) NP_001132915.1:n.*1326T=
NM_001363591.2:c.*1326T= (BEST1) NP_001350520.1:n.*1326T=
NM_001363593.2:c.*1326T= (BEST1) NP_001350522.1:n.*1326T=