Canonical Allele Identifier: CA10631097
Community Standard Title: NM_002032.3(FTH1):c.-204A>G
Gene: FTH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.61967629T>C , CM000673.2:g.61967629T>C GRCh38
NC_000011.9:g.61735101T>C , CM000673.1:g.61735101T>C GRCh37
NC_000011.8:g.61491677T>C NCBI36
NG_008346.1:g.5032A>G

Transcript Alleles

HGVS Amino-acid Change
NM_002032.3:c.-204A>G MANE Select NP_002023.2:n.-204A>G
ENST00000273550.12:c.-204A>G MANE Select ENSP00000273550.7:n.-204A>G
NM_002032.2:c.-204A>G NP_002023.2:n.-204A>G
ENST00000273550.11:c.-204A>G ENSP00000273550.7:n.-204A>G
ENST00000529191.5:c.-204A>G ENSP00000431659.1:n.-204A>G
ENST00000529548.1:c.-390A>G ENSP00000436947.1:n.-390A>G
ENST00000529631.5:c.-204A>G ENSP00000431575.1:n.-204A>G
ENST00000530019.5:c.-204A>G ENSP00000433470.1:n.-204A>G
ENST00000532829.5:c.-204A>G ENSP00000432223.1:n.-204A>G
ENST00000534180.1:c.-204A>G ENSP00000434403.1:n.-204A>G
ENST00000620041.4:c.-110A>G ENSP00000484477.1:n.-110A>G
ENST00000620041.5:c.-115A>G ENSP00000484477.1:n.-115A>G