Canonical Allele Identifier: CA1977539085

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.61964672C= , CM000673.2:g.61964672C= GRCh38
NC_000011.9:g.61732144C= , CM000673.1:g.61732144C= GRCh37
NC_000011.8:g.61488720C= NCBI36
NG_008346.1:g.7989G=
NG_009033.1:g.19789C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000620041.5:c.*55G= (FTH1) ENSP00000484477.1:n.*55G=
ENST00000273550.12:c.*55G= (FTH1) MANE Select ENSP00000273550.7:n.*55G=
ENST00000273550.11:c.*55G= (FTH1) ENSP00000273550.7:n.*55G=
ENST00000449131.6:c.*1523C= (BEST1) ENSP00000399709.2:n.*1523C=
ENST00000526640.5:c.*55G= (FTH1) ENSP00000433321.1:n.*55G=
ENST00000529191.5:c.114+2640G= (FTH1) ENSP00000431659.1:n.114+2640G=
ENST00000529631.5:c.114+2640G= (FTH1) ENSP00000431575.1:n.114+2640G=
ENST00000530019.5:c.261+697G= (FTH1) ENSP00000433470.1:n.261+697G=
ENST00000532601.1:c.*55G= (FTH1) ENSP00000435111.1:n.*55G=
ENST00000532829.5:c.*312G= (FTH1) ENSP00000432223.1:n.*312G=
ENST00000534180.1:c.*516G= (FTH1) ENSP00000434403.1:n.*516G=
ENST00000620041.4:c.*55G= (FTH1) ENSP00000484477.1:n.*55G=
NM_002032.2:c.*55G= (FTH1) NP_002023.2:n.*55G=
NM_002032.3:c.*55G= (FTH1) MANE Select NP_002023.2:n.*55G=
NM_001139443.2:c.*1523C= (BEST1) NP_001132915.1:n.*1523C=
NM_001363591.2:c.*1523C= (BEST1) NP_001350520.1:n.*1523C=
NM_001363593.2:c.*1523C= (BEST1) NP_001350522.1:n.*1523C=