Canonical Allele Identifier: CA363326307
Gene: AIF1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31616122A>T , CM000668.2:g.31616122A>T GRCh38
NC_000006.11:g.31583899A>T , CM000668.1:g.31583899A>T GRCh37
NC_000006.10:g.31691878A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000376059.8:c.173A>T MANE Select ENSP00000365227.3:p.Asp58Val
ENST00000337917.11:c.215A>T ENSP00000338776.7:p.Asp72Val
ENST00000376049.4:c.11A>T ENSP00000365217.4:p.Asp4Val
ENST00000376059.7:c.173A>T ENSP00000365227.3:p.Asp58Val
ENST00000466820.1:n.590A>T
ENST00000497362.5:n.592A>T
NM_001623.3:c.173A>T NP_001614.3:p.Asp58Val
NM_004847.3:c.11A>T NP_004838.1:p.Asp4Val
NM_032955.1:c.11A>T NP_116573.1:p.Asp4Val
XM_005248870.3:c.173A>T XP_005248927.1:p.Asp58Val
XM_005248871.1:c.236A>T XP_005248928.1:p.Asp79Val
NM_001318970.1:c.11A>T NP_001305899.1:p.Asp4Val
NM_001623.4:c.173A>T NP_001614.3:p.Asp58Val
NM_032955.2:c.11A>T NP_116573.1:p.Asp4Val
XM_005248870.4:c.173A>T XP_005248927.1:p.Asp58Val
XM_017010332.1:c.11A>T XP_016865821.1:p.Asp4Val
NM_001623.5:c.173A>T MANE Select NP_001614.3:p.Asp58Val
NM_001318970.2:c.11A>T NP_001305899.1:p.Asp4Val
NM_032955.3:c.11A>T NP_116573.1:p.Asp4Val