Canonical Allele Identifier: CA10635128

Gene: FTH1 BEST1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61964562A>G , CM000673.2:g.61964562A>G	GRCh38
NC_000011.9:g.61732034A>G , CM000673.1:g.61732034A>G	GRCh37
NC_000011.8:g.61488610A>G	NCBI36
NG_008346.1:g.8099T>C
NG_009033.1:g.19679A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_002032.3:c.*165T>C (FTH1) MANE Select	NP_002023.2:n.*165T>C
ENST00000273550.12:c.*165T>C (FTH1) MANE Select	ENSP00000273550.7:n.*165T>C
NM_001139443.2:c.*1413A>G (BEST1)	NP_001132915.1:n.*1413A>G
NM_001363591.2:c.*1413A>G (BEST1)	NP_001350520.1:n.*1413A>G
NM_001363593.2:c.*1413A>G (BEST1)	NP_001350522.1:n.*1413A>G
NM_002032.2:c.*165T>C (FTH1)	NP_002023.2:n.*165T>C
ENST00000273550.11:c.*165T>C (FTH1)	ENSP00000273550.7:n.*165T>C
ENST00000449131.6:c.*1413A>G (BEST1)	ENSP00000399709.2:n.*1413A>G
ENST00000529191.5:c.114+2750T>C (FTH1)	ENSP00000431659.1:n.114+2750T>C
ENST00000529631.5:c.114+2750T>C (FTH1)	ENSP00000431575.1:n.114+2750T>C
ENST00000530019.5:c.261+807T>C (FTH1)	ENSP00000433470.1:n.261+807T>C